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VAC14 - VAC14 component of PIKFYVE complex
- Synonym(s) : ArPIKfyve, FLJ10305
- Previous symbols and names : TAX1BP2, Tax1 (human T-cell leukemia virus type I) binding protein 2, Vac14 homolog (S. cerevisiae), Vac14, PIKFYVE complex component
- Type : gene with protein product
- Chromosomal location : 16q22.1-q22.2
- OMIM: 604632
- HGNC: 25507
- UniProtKB: Q08AM6
- Genatlas: VAC14
- GenCC: VAC14
- Ensembl: ENSG00000103043
- IUPHAR-DB: -
- Reactome: Q08AM6
- LOVD: VAC14
Diseases list
- Disease-causing germline mutation(s) in Childhood-onset basal ganglia degeneration syndrome
ORPHA:497906 
- Disease-causing germline mutation(s) in Yunis-Varon syndrome
ORPHA:3472
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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