LP31872-2
GLA gene
Active
Descriptions
The GLA gene is located on chromosome Xq22.1 and encodes alpha-galactosidase A, a lysosomal enzyme involved in the metabolism of glycosphingolipids. GLA mutations cause Fabry disease, an X-linked disorder characterized by progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, and skin lesions. [OMIM: 301500] Source: Regenstrief LOINC, OMIM: 301500
The GLA gene (galactosidase, alpha) [HGNC Gene ID:4296] is located on chromosome Xq22. 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] [NCBI Gene ID:2717] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- GLA gene
- Part Display Name
- GLA gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-08-08
- Construct for LOINC Short Name
- GLA gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GLA 基因 Synonyms: AFD; |
| et-EE | Estonian (Estonia) | GLA geen |
| es-ES | Spanish (Spain) | Gen GLA |
| it-IT | Italian (Italy) | GLA, gene Synonyms: Gene GLA |
| tr-TR | Turkish (Turkey) | GLA geni |
| ru-RU | Russian (Russian Federation) | GLA ген |
| nl-NL | Dutch (Netherlands) | GLA-gen Synonyms: GLA gen |
LOINC Copyright
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