RPH3A Chromosome 12
Rabphilin 3A
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What This Gene Does
The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Synaptotagmin like tandem C2 proteins
Locus Type
gene with protein product
Location
12q24.13
Ensembl
ENSG00000089169
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779991033 | Health Risk | Pathogenic | — |