GLA Gene - Alpha-Galactosidase A
Comprehensive biomedical resource for the GLA gene, including genomic data, disease associations, expression profiles, and mutation analysis.
Gene Information Card
| Symbol | GLA |
|---|---|
| Full Name | Galactosidase Alpha |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 2717 ncbi.nlm.nih.gov/gene/2717 |
| Ensembl ID | ENSG00000102393 |
| UniProt ID | P06280 |
| OMIM ID | 300644 |
| HGNC ID | 4296 |
| Aliases | GALA, GLA, alpha-D-galactosidase A, alpha-D-galactoside galactohydrolase, melibiase |
Description
The GLA gene encodes alpha-galactosidase A, a lysosomal enzyme that hydrolyzes the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. Deficiency of this enzyme leads to accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids, causing Fabry disease, an X-linked lysosomal storage disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fabry Disease | Loss-of-function mutations in GLA cause deficiency of alpha-galactosidase A, leading to accumulation of globotriaosylceramide in lysosomes, resulting in progressive renal, cardiac, and cerebrovascular damage. | ClinVar, OMIM |
| Fabry Disease, Cardiac Variant | Specific missense mutations (e.g., p.Asn215Ser) result in residual enzyme activity, predominantly affecting the heart with hypertrophic cardiomyopathy. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.9 | Medium |
| Brain | 6.3 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 11.2 | Medium expression |
| HepG2 | 9.8 | Medium expression |
| K-562 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.937G>T (p.Asp313Tyr) | Missense | ~5% in Fabry cohorts | Loss of function |
| c.679C>T (p.Arg227Ter) | Nonsense | ~2% | Loss of function |
| c.427G>A (p.Ala143Thr) | Missense | ~3% | Loss of function |
| c.644A>G (p.Asn215Ser) | Missense | ~1% (cardiac variant) | Partial loss of function |
Mutation functional classification
Loss of Function (LOF)
Most GLA mutations cause complete or near-complete loss of alpha-galactosidase A enzymatic activity, leading to classic Fabry disease.
Gain of Function (GOF)
No gain-of-function mutations are reported for GLA.
Dominant Negative (DN)
Dominant-negative effects are not typical for GLA; the X-linked inheritance pattern and enzyme deficiency are recessive at the cellular level.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0004553) | • lysosome (GO:0005764) |
| • carbohydrate metabolic process (GO:0005975) | • hydrolase activity (GO:0016798) |
Pathways
• Lysosome (KEGG: hsa04142)
• Glycosphingolipid biosynthesis – globo series (KEGG: hsa00603)
• Sphingolipid metabolism (KEGG: hsa00600)
Protein Summary
Alpha-galactosidase A (UniProt P06280) is a homodimeric lysosomal glycoprotein of 429 amino acids. It catalyzes the hydrolysis of terminal alpha-D-galactosyl residues from glycosphingolipids. The enzyme requires the cofactor nicotinamide adenine dinucleotide (NAD+) for activity. Deficiency leads to Fabry disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLA Knockout HEK293 Cell Line | EDJ-KQ198 | Human | 2717 | Details Get a Quote |
| GLA Knockout HEK293T Cell Line | EDJ-KQ205 | Human | 2717 | Details Get a Quote |
| DAGLA Knockout HEK293 Cell Line | EDJ-KQ4176 | Human | 747 | Details Get a Quote |
| FIGLA Knockout HEK293 Cell Line | EDJ-KQ12732 | Human | 344018 | Details Get a Quote |
| GLA Knockout HCT 116 Cell Line | EDJ-KQ26198 | Human | 2717 | Details Get a Quote |
| DAGLA Knockout A-549 Cell Line | EDJ-KQ25293 | Human | 747 | Details Get a Quote |
| DAGLA Knockout HCT 116 Cell Line | EDJ-KQ26619 | Human | 747 | Details Get a Quote |
| DAGLA Knockout HeLa Cell Line | EDJ-KQ26620 | Human | 747 | Details Get a Quote |
| GLA Knockout A-549 Cell Line | EDJ-KQ27435 | Human | 2717 | Details Get a Quote |
| GLA Knockout HeLa Cell Line | EDJ-KQ27436 | Human | 2717 | Details Get a Quote |
| BGLAP Knockout HEK293 Cell Line | EDJ-KQ50155 | Human | 632 | Details Get a Quote |
| PMF1-BGLAP Knockout HEK293 Cell Line | EDJ-KQ52483 | Human | 100527963 | Details Get a Quote |
| BGLAP Knockout HeLa Cell Line | EDJ-KQ52717 | Human | 632 | Details Get a Quote |
| FIGLA Knockout HeLa Cell Line | EDJ-KQ59766 | Human | 344018 | Details Get a Quote |
| PMF1-BGLAP Knockout HeLa Cell Line | EDJ-KQ60946 | Human | 100527963 | Details Get a Quote |
Displaying Records 1 To 15 Of 22 Records
