Gene
GLA
galactosidase alpha
- HGNC 4296(opens in a new tab)
- Ensembl gene ENSG00000102393(opens in a new tab)
- NCBI Gene 2717(opens in a new tab)
Summary
- Cytogenetic location
- Xq22.1
- Coordinates
- Chromosome X: 101,397,803–101,407,925 (GRCh38)
- Exons
- 7 exons across 10.1 kb
- Protein
- 429 amino acids
- Inheritance
- X-linked recessive
- Also known as
- GALA
- MANE Select transcript
- ENST00000218516.4NM_000169.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Fabry Disease
- X-linked recessive
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Enzyme replacement therapy (agalsidase alfa or agalsidase beta); migalastat (Galafold) for amenable GLA variants; pain management (carbamazepine, gabapentin); ACE inhibitor/ARB nephroprotection; cardiac device management for arrhythmias
Broader groupings
Lysosomal Storage Disease
- Lysosomal storage disease (other and unspecified types)
One of 59 genes linked to it
Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
Inheritance
- X-linked recessive
- The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.
How GLA is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.3 kb of the gene's 10.1 kb; 1,290 of those bases code for the protein.
How a genome test reads GLA
715
positions in GLA where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 10.1 kb of GLA, introns included, not only the 1.3 kb of exons.
Variants with a page (364)
The GLA variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A15E | c.44C>A | Exon 1 | 101,407,860 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A20D | c.59C>A | Exon 1 | 101,407,845 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A20Gfs*2 | c.59_84del | Exon 1 | 101,407,819 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A29Gfs*2 | c.85dup | Exon 1 | 101,407,818 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A31V | c.92C>T | Exon 1 | 101,407,812 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A37P | c.109G>C | Exon 1 | 101,407,795 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A37T | c.109G>A | Exon 1 | 101,407,795 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A97V | c.290C>T | Exon 2 | 101,403,890 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A121P | c.361G>C | Exon 2 | 101,403,819 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A135V | c.404C>T | Exon 3 | 101,401,775 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Traits linked to GLA
The Human Phenotype Ontology lists these as features of the rare conditions GLA can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Acroparesthesia
- Behavioral abnormality
- Cognitive impairment
- Anxiety
- Depression
- Epilepsy
- Loss of developmental milestones
- Abnormal autonomic nervous system physiology
Show 2 more traits
Abnormality of the digestive system
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). GLA gene: galactosidase alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/gla
Dante Labs. GLA gene: galactosidase alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gla
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