Gla Gene Alpha Galactosidase A is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
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| Attribute | Value |
|---|---|
| Gene Symbol | GLA |
| Gene Name | Alpha-Galactosidase A |
| Official Full Name | Alpha-Galactosidase A |
| Chromosomal Location | Xq22.1 |
| GRCh38 Coordinates | chrX:154,053,516-154,068,623 |
| NCBI Gene ID | 2715 |
| OMIM ID | 301500 |
| Ensembl ID | ENSG00000102393 |
| UniProt ID | P06280 |
| Gene Family | Glycoside hydrolase family 27 |
The GLA gene encodes alpha-galactosidase A (α-Gal A), a lysosomal hydrolase that catalyzes the hydrolysis of globotriaosylceramide (GL-3) and other glycolipids with terminal alpha-galactosyl residues.[1] Deficiency of α-Gal A causes Fabry disease, an X-linked lysosomal storage disorder that causes progressive renal failure, cardiac disease, and stroke.
Alpha-galactosidase A is a glycoside hydrolase:[2]
An X-linked lysosomal storage disorder:[3]
| Feature | Description |
|---|---|
| Inheritance | X-linked (males severely affected) |
| Onset | Childhood or adolescence |
| Kidney | Proteinuria, renal failure (end-stage by age 40-50) |
| Heart | Cardiomyopathy, left ventricular hypertrophy, arrhythmias |
| Brain | TIA/stroke, white matter lesions |
| Skin | Angiokeratomas |
| Nerves | Acroparesthesias, pain crises |
| Eyes | Cornea verticillata |
| Variant Type | Effect | Phenotype |
|---|---|---|
| Missense | Reduced activity | Classic or variant Fabry |
| Nonsense | No enzyme | Severe classic |
| Frameshift | Truncated protein | Severe classic |
| Splice site | Abnormal processing | Variable |
| Variant | Effect | Frequency |
|---|---|---|
| p.R112H | Missense | Common |
| p.M296I | Missense | Common |
| p.R342Q | Missense | Common |
| c.639+919G>A | Deep intronic | Variant (↑ GL-3) |
GLA interacts with:
Enzyme replacement therapy (ERT) is available:[4]
| Treatment | Brand | Mechanism |
|---|---|---|
| Agalsidase alpha | Replagal | Recombinant α-Gal A |
| Agalsidase beta | Fabrazyme | Recombinant α-Gal A |
| Migalastat | Galafold | Pharmacological chaperone |
| Gene therapy | AAV-GLA | Under development |
The study of Gla Gene Alpha Galactosidase A has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Last updated: March 2026