Gene: RPL36A-HNRNPH2

Alternate names for this Gene: -

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring ribosomal protein L36a and heterogeneous nuclear ribonucleoprotein H2 (H') genes on chromosome X. The read-through transcript produces a protein with similarity to the protein encoded by the upstream locus, ribosomal protein L36a. Alternatively spliced transcript variants have been identified.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.1

Description of this Gene: RPL36A-HNRNPH2 readthrough

Type of Gene: protein-coding

Gene: GLA

Alternate names for this Gene: GALA

Gene Summary: This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.1

Description of this Gene: galactosidase alpha

Type of Gene: protein-coding

rs104894827 in RPL36A-HNRNPH2;GLA gene and Fabry Disease PMID 24582695 2014 Fabry disease: a new approach for the screening of females in high-risk groups.

PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PMID 25382311 2015 Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.

PMID 17532296 2007 Screening for pharmacological chaperones in Fabry disease.

PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 20031620 2009 High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.

PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

PMID 2152885 1990 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 1315715 1992 Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

PMID 16980809 2006 Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

PMID 11295840 2001 Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

PMID 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.

PMID 17555407 2007 Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.

PMID 12786754 2003 Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

PMID 21934708 2012 Clinical utility gene card for: Fabry disease.

PMID 23935525 2013 Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 22551898 2012 New mutations in the GLA gene in Brazilian families with Fabry disease.

PMID 23537685 2013 What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.

PMID 21598360 2011 A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.

PMID 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

PMID 24334114 2014 Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 10208848 1999 Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

PMID 22773828 2012 α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PMID 23378663 2015 Diagnosing Fabry disease--delays and difficulties within discordant siblings.

PMID 22241068 2012 Pharmacological chaperone therapy for Fabry disease.

PMID 15702404 2005 Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.

PMID 24386359 2013 Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

PMID 27356758 2016 Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

PMID 1315715 1992 Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case.

PMID 9883849 1999 Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.

PMID 9395081 1997 Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.

PMID 20505683 2010 Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

PMID 11688386 2001 A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant.

PMID 8738659 1996 Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.

PMID 27560961 2016 Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

PMID 11322659 2001 Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

PMID 12428061 2002 Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.

PMID 10916280 2000 Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

PMID 1315715 1992 In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.

PMID 1315715 1992 In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.

PMID 8395937 1993 Mutation analysis in patients with the typical form of Anderson-Fabry disease.

PMID 27657681 2017 The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

PMID 22227322 2012 Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.

PMID 1315715 1992 In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.

PMID 12668521 2003 Early detection of Fabry cardiomyopathy by tissue Doppler imaging.

PMID 18698230 2008 Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

PMID 9116979 1997 Pulmonary involvement in Fabry disease.

PMID 26047621 2015 Pathology and function of conduction tissue in Fabry disease cardiomyopathy.

PMID 15712228 2005 Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

PMID 25439755 2015 A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke.

PMID 18205205 2008 Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

PMID 12938095 2003 Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.

PMID 10649504 2000 Five novel mutations in fourteen patients with Fabry Disease.

PMID 11889412 2002 Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

PMID 26937405 2015 Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.

PMID 28302345 2017 Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.

PMID 12175777 2002 Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.

PMID 11668641 2001 Fabry disease: 20 novel GLA mutations in 35 families.

PMID 21946453 2011 The α-galactosidase A activity was deficient in plasma and normal in peripheral leukocytes; the GLA gene showed a nucleotide substitution c.352C>T (p.Arg 118 Cys) in the eson 2 with a residual enzyme activity of the 29% suggesting the diagnosis of Fabry disease.

PMID 24661928 2014 Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.

PMID 25468652 2015 Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease.

PMID 2393552 1990 A comparison of brain glucose metabolism in diabetes as measured by positron emission tomography or by arteriovenous techniques.

PMID 16773563 2006 High incidence of later-onset fabry disease revealed by newborn screening.

PMID 20122163 2010 Frequency of Fabry disease in male and female haemodialysis patients in Spain.

PMID 24365053 2014 Prevalence of Fabry's disease within hemodialysis patients in Spain.

PMID 20110537 2010 Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.

PMID 29079200 2018 Female Fabry disease patients and X-chromosome inactivation.

PMID 25974833 2016 X-chromosome inactivation in female patients with Fabry disease.

PMID 15806320 2005 Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.

PMID 20628902 2010 Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease).

PMID 22176145 2011 Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy.

PMID 9100224 1997 Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

PMID 16595074 2006 Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

PMID 26333625 2016 Gastrointestinal involvement in Fabry disease. So important, yet often neglected.

PMID 15100373 2004 Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.

PMID 12778775 2003 Anderson-Fabry disease in Austria.

PMID 19387866 2009 The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.

PMID 18424138 2008 Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

PMID 7531540 1994 Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

PMID 25026990 2014 Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.

PMID 25596309 2015 Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.

PMID 27979989 2017 Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

PMID 25040344 2015 Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.

PMID 20022777 2010 Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.

PMID 15776423 2005 Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

PMID 8875188 1996 Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.

PMID 26252393 2015 Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.

PMID 8807334 1996 A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.

PMID 19941952 2010 Functional studies of new GLA gene mutations leading to conformational Fabry disease.

PMID 20367968 2010 [Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].

PMID 28756410 2017 Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.

PMID 18154965 2007 Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.

PMID 15339079 2004 A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.

PMID 9452068 1998 A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.

PMID 26297554 2015 Identification of mutations in Colombian patients affected with Fabry disease.

PMID 15713906 2005 Pediatric Fabry disease.

PMID 19287194 2009 Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

PMID 28682471 2017 Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.

PMID 21896204 2011 Genetic screening of Fabry patients with EcoTILLING and HRM technology.

PMID 24236025 2013 Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

PMID 22004918 2011 Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

PMID 18387337 2008 Neuropathic symptoms and findings in women with Fabry disease.

PMID 26083343 2015 Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.

PMID 28500230 2018 Conjunctival lymphangiectasia associated with classic Fabry disease.