ATP6V0A1 Chromosome 17
ATPase H+ transporting V0 subunit a1
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What This Gene Does
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"V-type ATPase subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000033627
Associated Conditions (9)
Inborn genetic diseases
6 conditions
Developmental and epileptic encephalopathy 104
Global developmental delay
Large for gestational age
Hypotonia
Seizure
Microcephaly
Neurodevelopmental disorder with epilepsy and brain atrophy
Key Variants
RS1567871600
Conflicting classifications of pathogenicity
Inborn genetic diseases, 6 conditions, Developmental and epileptic encephalopathy 104
Health Risk
RS2145591069
Conflicting classifications of pathogenicity
Seizure, Global developmental delay, Developmental and epileptic encephalopathy 104
Health Risk
RS1178273736
Likely pathogenic
Health Risk
RS2509993138
Likely pathogenic
Developmental and epileptic encephalopathy 104, Developmental and epileptic encephalopathy 104
Health Risk
RS1426272694
Pathogenic
Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy
Health Risk
RS2145815692
Pathogenic
Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy
Health Risk
RS2510238970
Pathogenic
Developmental and epileptic encephalopathy 104, Developmental and epileptic encephalopathy 104
Health Risk
RS2510244017
Pathogenic
Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy
Health Risk
RS2510271888
Pathogenic
Developmental and epileptic encephalopathy 104, Developmental and epileptic encephalopathy 104
Health Risk
RS2510487229
Pathogenic
Developmental and epileptic encephalopathy 104, Neurodevelopmental disorder with epilepsy and brain atrophy, Developmental and epileptic encephalopathy 104
Health Risk
RS766856192
Pathogenic
Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567871600 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 6 conditions, Developmental and epileptic encephalopathy 104 |
| RS2145591069 | Health Risk | Conflicting classifications of pathogenicity | Seizure, Global developmental delay, Developmental and epileptic encephalopathy 104 |
| RS1178273736 | Health Risk | Likely pathogenic | — |
| RS2509993138 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 104, Developmental and epileptic encephalopathy 104 |
| RS1426272694 | Health Risk | Pathogenic | Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy |
| RS2145815692 | Health Risk | Pathogenic | Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy |
| RS2510238970 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 104, Developmental and epileptic encephalopathy 104 |
| RS2510244017 | Health Risk | Pathogenic | Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy |
| RS2510271888 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 104, Developmental and epileptic encephalopathy 104 |
| RS2510487229 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 104, Neurodevelopmental disorder with epilepsy and brain atrophy, Developmental and epileptic encephalopathy 104 |
| RS766856192 | Health Risk | Pathogenic | Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy |