GLA |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GLA (HGNC:4296) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- galactosidase alpha
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- GALA
- %HI
- 42.34(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.18(Read more about gnomAD LOEUF score)
- Cytoband
- Xq22.1
- Genomic Coordinates
-
GRCh37/hg19: chrX:100652791-100662913 NCBI Ensembl UCSC GRCh38/hg38: chrX:101397803-101407925 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000169.3 ENST00000218516.4 (Read more about MANE Select)
- Function
- Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome. {ECO:0000269|PubMed:10838196, ECO:0000269|PubMed:8804427}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- Fabry disease Monarch
-
PUBMED:
27560961
Pan et al. (2016) evaluated 73 Chinese Fabry disease patients. Overall, 47 variants (considered to be pathogenic) were identified in 58 families, including 4 unique nonsense variants, 1 splice variant, and at least 7 different frameshift variants among classically affected individuals. For male patients, those with frameshift and nonsense mutations presented the classical FD, whereas those with missense mutations presented both of classical and atypical phenotypes.
-
PUBMED:
30988410
Kobayashi M et al (2019) examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. In total, 73 different disease-causing mutations were identified: 41 missense (56.2%), 11 nonsense (15.1%), four in frame deletion (5.5%), 10 frameshift (13.7%), six splice site (8.2%), and one intronic (1.4%) mutations. The GLA mutations detected in later-onset phenotype patients with end-stage renal disease overlapped with those seen in classical patients, indicating that it is difficult to differentiate between these two phenotypes from gene mutations.
-
PUBMED:
11322659
Ashley GA et al (2001) evaluated the GLA mutation spectrum in 40 unrelated families with the classical phenotype (absent alpha-Gal A activity). The data revealed 20 novel and 17 previously reported mutations. Among these 37 pathogenic variants, there were 8 nonsense variants and 6 frameshift variants.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.