Gene: GLB1

Alternate names for this Gene: EBP|ELNR1|MPS4B

Gene Summary: This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome.

Gene is located in Chromosome: 3

Location in Chromosome : 3p22.3

Description of this Gene: galactosidase beta 1

Type of Gene: protein-coding

Gene: LOC107986073

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs6776757 in GLB1;LOC107986073 gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs7613051 in GLB1;LOC107986073 gene and Dermatitis, Atopic PMID 23042114 2012 Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.

rs73057087 in GLB1;LOC107986073 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs564428355 in GLB1;LOC107986073 gene and Gangliosidosis GM1 PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 18571950 2009 "The potential action of galactose as a ""chemical chaperone"": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient."

PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

rs564428355 in GLB1;LOC107986073 gene and Gangliosidosis, Generalized GM1, Type 1 (disorder) PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 21520340 2011 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

PMID 20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

PMID 1909089 1991 GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

rs564428355 in GLB1;LOC107986073 gene and Gangliosidosis, Generalized GM1, Type 2 PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

PMID 21520340 2011 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

PMID 1909089 1991 GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

rs564428355 in GLB1;LOC107986073 gene and Gangliosidosis, Generalized GM1, Type 3 PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 21520340 2011 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

PMID 20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

PMID 1909089 1991 GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

rs564428355 in GLB1;LOC107986073 gene and Mucopolysaccharidosis type IVB PMID 21520340 2011 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

PMID 18571950 2009 "The potential action of galactose as a ""chemical chaperone"": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient."

PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

PMID 1909089 1991 GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

PMID 7586649 1995 Clinical and molecular analysis of a Japanese boy with Morquio B disease.

PMID 12393180 2002 Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.

PMID 11511921 2001 Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

PMID 16538002 2006 Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.

PMID 16941474 2006 Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

PMID 17664528 2007 Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.

PMID 1928092 1991 Human beta-galactosidase gene mutations in morquio B disease.