Description: Homo sapiens galactosidase, alpha (GLA), mRNA. RefSeq Summary (NM_000169): 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]. Transcript (Including UTRs) Position: hg19 chrX:100,652,779-100,663,001 Size: 10,223 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chrX:100,652,797-100,662,891 Size: 10,095 Coding Exon Count: 7
ID:AGAL_HUMAN DESCRIPTION: RecName: Full=Alpha-galactosidase A; EC=3.2.1.22; AltName: Full=Alpha-D-galactosidase A; AltName: Full=Alpha-D-galactoside galactohydrolase; AltName: Full=Melibiase; AltName: INN=Agalsidase; Flags: Precursor; CATALYTIC ACTIVITY: Hydrolysis of terminal, non-reducing alpha-D- galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipids. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Lysosome. RNA EDITING: Modified_positions=396; Note=Partially edited. DISEASE: Defects in GLA are the cause of Fabry disease (FD) [MIM:301500]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities. PHARMACEUTICAL: Available under the names Replagal (Transkaryotic Therapies) and Fabrazyme (Genzyme). Used as a long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease. SIMILARITY: Belongs to the glycosyl hydrolase 27 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLA";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P06280
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0005975 carbohydrate metabolic process GO:0006687 glycosphingolipid metabolic process GO:0008152 metabolic process GO:0009311 oligosaccharide metabolic process GO:0016139 glycoside catabolic process GO:0043312 neutrophil degranulation GO:0045019 negative regulation of nitric oxide biosynthetic process GO:0046477 glycosylceramide catabolic process GO:0046479 glycosphingolipid catabolic process GO:0051001 negative regulation of nitric-oxide synthase activity