ATP6V0C Chromosome 16
ATPase H+ transporting V0 subunit c
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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. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]
Gene Info
Gene Group
V-type ATPase subunits
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000185883
Associated Conditions (9)
See cases
Seizure
EPILEPSY
EARLY-ONSET
3
WITH DEVELOPMENTAL DELAY
Epilepsy
early-onset
with or without developmental delay
Key Variants
RS2505559061
Likely pathogenic
Health Risk
RS2505559100
Likely pathogenic
Health Risk
RS2505559150
Likely pathogenic
See cases, See cases
Health Risk
RS2505559153
Likely pathogenic
Health Risk
RS2065899210
Pathogenic
Seizure, EPILEPSY, EARLY-ONSET
Health Risk
RS2505548999
Pathogenic
Epilepsy, early-onset, 3
Health Risk
RS2505557619
Pathogenic
EPILEPSY, EARLY-ONSET, 3
Health Risk
RS2505557763
Pathogenic
EPILEPSY, EARLY-ONSET, 3
Health Risk
RS2505557999
Pathogenic
Epilepsy, early-onset, 3
Health Risk
RS2505558964
Pathogenic
Epilepsy, early-onset, 3
Health Risk
RS2505559108
Pathogenic
EPILEPSY, EARLY-ONSET, 3
Health Risk
RS2505559205
Pathogenic
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2505559061 | Health Risk | Likely pathogenic | — |
| RS2505559100 | Health Risk | Likely pathogenic | — |
| RS2505559150 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2505559153 | Health Risk | Likely pathogenic | — |
| RS2065899210 | Health Risk | Pathogenic | Seizure, EPILEPSY, EARLY-ONSET |
| RS2505548999 | Health Risk | Pathogenic | Epilepsy, early-onset, 3 |
| RS2505557619 | Health Risk | Pathogenic | EPILEPSY, EARLY-ONSET, 3 |
| RS2505557763 | Health Risk | Pathogenic | EPILEPSY, EARLY-ONSET, 3 |
| RS2505557999 | Health Risk | Pathogenic | Epilepsy, early-onset, 3 |
| RS2505558964 | Health Risk | Pathogenic | Epilepsy, early-onset, 3 |
| RS2505559108 | Health Risk | Pathogenic | EPILEPSY, EARLY-ONSET, 3 |
| RS2505559205 | Health Risk | Pathogenic | — |
| RS2505559214 | Health Risk | Pathogenic | EPILEPSY, EARLY-ONSET, 3 |