| Entrez Gene ID |
23085 |
| Official Gene Symbol |
ERC1 (GeneCards) |
| Full name |
ELKS/RAB6-interacting/CAST family member 1 |
| Location |
12p13.33 |
| Other ids |
MIM : 607127
HGNC : HGNC:17072
Ensembl : ENSG00000082805
|
| Other names |
ELKS,
Cast2,
ERC-1,
RAB6IP2
|
| Summary |
The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |