Gene Symbol | ERC1 |
Entrez Gene ID | 23085 |
Full Name | ELKS/RAB6-interacting/CAST family member 1 |
Synonyms | Cast2,ELKS,ERC-1,RAB6IP2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: |