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Gene: GLA (galactosidase alpha) Homo sapiens
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Symbol: GLA
Name: galactosidase alpha
Description: 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. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: agalsidase alfa; alpha-D-galactosidase A; alpha-D-galactoside galactohydrolase 1; alpha-gal A; alpha-galactosidase A; GALA; galactosidase, alpha; melibiase
Orthologs:
Mus musculus (house mouse) : Gla (galactosidase, alpha)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gla (galactosidase, alpha)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gla (galactosidase alpha)
Pan paniscus (bonobo/pygmy chimpanzee) : GLA (galactosidase alpha)
Canis lupus familiaris (dog) : GLA (galactosidase alpha)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gla (galactosidase alpha)
Sus scrofa (pig) : GLA (galactosidase alpha)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X101,397,791 - 101,408,013 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,652,779 - 100,663,001 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,539,435 - 100,549,657 (-)NCBINCBI36hg18NCBI36
Build 34X100,458,941 - 100,469,096NCBI
CeleraX101,172,239 - 101,182,459 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,459,075 - 90,468,889 (-)NCBIHuRef
CHM1_1X100,546,260 - 100,556,479 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on GLA
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1344140
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.