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
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: HNRNPH2
Alternate names for this Gene: FTP3|HNRPH'|HNRPH2|MRXSB|NRPH2|hnRNPH'
Gene Summary: This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed.
Gene is located in Chromosome: X
Location in Chromosome : Xq22.1
Description of this Gene: heterogeneous nuclear ribonucleoprotein H2
Type of Gene: protein-coding
rs1555987215 in
GLA;RPL36A-HNRNPH2;HNRNPH2 gene and
Fabry Disease
PMID 15712228 2005 Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
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 9100224 1997 Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
PMID 27129690 2016 Significant improvement in Fabry disease podocytopathy after 3 years of treatment with agalsidase beta.
PMID 28672034 2017 Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
PMID 27657681 2017 The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
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 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes 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 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
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 23935525 2013 Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
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 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
PMID 16980809 2006 Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
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 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.
PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
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 12786754 2003 Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
PMID 19287194 2009 Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
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 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
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 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.
PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.
PMID 21934708 2012 Clinical utility gene card for: Fabry disease.
PMID 17452128 2007 Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study.