Galactosidase alpha (GLA) Associated conditions: 1. Fabry disease
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_000169.3 | NP_000160.1 | NC_000023.11 | (101397802..101407924, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001406747.1 | NP_001393676.1 | NC_000023.11 | (101397802..101407924, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001406748.1 | NP_001393677.1 | NC_000023.11 | (101397802..101407924, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001406749.1 | NP_001393678.1 | NC_000023.11 | (101397802..101407924, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NR_164783.1 | - | NC_000023.11 | (101397802..101407924, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NR_176252.1 | - | NC_000023.11 | (101397802..101407924, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NR_176253.1 | - | NC_000023.11 | (101397802..101407924, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Galactosidase alpha (GLA) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IDA | enables | catalytic activity | Function | 39940 |
| 2 | Homo sapiens | IEA | enables | hydrolase activity, hydrolyzing O-glycosyl compounds | Function | - |
| 3 | Homo sapiens | IBA | enables | alpha-galactosidase activity | Function | - |
| 4 | Homo sapiens | IDA | enables | alpha-galactosidase activity | Function | 39940 8804427 27211852 |
| 5 | Homo sapiens | IEA | enables | alpha-galactosidase activity | Function | - |
| 6 | Homo sapiens | IMP | enables | alpha-galactosidase activity | Function | 10838196 16372133 |
| 7 | Homo sapiens | IDA | enables | signaling receptor binding | Function | 1332979 |
| 8 | Homo sapiens | IPI | enables | protein binding | Function | 1332979 6313412 21949853 33961781 |
| 9 | Homo sapiens | IDA | located_in | extracellular region | Component | 3029062 |
| 10 | Homo sapiens | IEA | located_in | extracellular region | Component | - |
| 11 | Homo sapiens | IMP | located_in | extracellular region | Component | 1332979 |
| 12 | Homo sapiens | TAS | located_in | extracellular region | Component | - |
| 13 | Homo sapiens | IBA | is_active_in | cytoplasm | Component | - |
| 14 | Homo sapiens | IMP | located_in | cytoplasm | Component | 1332979 |
| 15 | Homo sapiens | IEA | located_in | lysosome | Component | - |
| 16 | Homo sapiens | IMP | located_in | lysosome | Component | 1332979 |
| 17 | Homo sapiens | TAS | located_in | lysosome | Component | 3029062 |
| 18 | Homo sapiens | IMP | located_in | Golgi apparatus | Component | 1332979 |
| 19 | Homo sapiens | IEA | involved_in | carbohydrate metabolic process | Process | - |
| 20 | Homo sapiens | IEA | involved_in | lipid metabolic process | Process | - |
| 21 | Homo sapiens | IBA | involved_in | oligosaccharide metabolic process | Process | - |
| 22 | Homo sapiens | IDA | involved_in | oligosaccharide metabolic process | Process | 39940 |
| 23 | Homo sapiens | IBA | involved_in | glycoside catabolic process | Process | - |
| 24 | Homo sapiens | IEA | enables | hydrolase activity | Function | - |
| 25 | Homo sapiens | TAS | enables | hydrolase activity | Function | 7911050 |
| 26 | Homo sapiens | IEA | enables | hydrolase activity, acting on glycosyl bonds | Function | - |
| 27 | Homo sapiens | TAS | located_in | azurophil granule lumen | Component | - |
| 28 | Homo sapiens | IDA | enables | protein homodimerization activity | Function | 6256390 |
| 29 | Homo sapiens | TAS | located_in | lysosomal lumen | Component | - |
| 30 | Homo sapiens | ISS | involved_in | negative regulation of nitric oxide biosynthetic process | Process | - |
| 31 | Homo sapiens | ISS | involved_in | glycosylceramide catabolic process | Process | - |
| 32 | Homo sapiens | IDA | involved_in | glycosphingolipid catabolic process | Process | 8804427 |
| 33 | Homo sapiens | IEA | involved_in | glycosphingolipid catabolic process | Process | - |
| 34 | Homo sapiens | IMP | involved_in | glycosphingolipid catabolic process | Process | 10838196 |
| 35 | Homo sapiens | TAS | involved_in | glycosphingolipid catabolic process | Process | 2160973 |
| 36 | Homo sapiens | ISS | involved_in | negative regulation of nitric-oxide synthase activity | Process | - |
| 37 | Homo sapiens | HDA | located_in | extracellular exosome | Component | 23533145 |