ERC1

Chr 12

ELKS/RAB6-interacting/CAST family member 1

Also known as: Cast2, ELKS, ERC-1, RAB6IP2

NCBI Gene: 23085 ENSG00000082805 UniProt: Q8IUD2

The protein is a regulatory subunit of the IKK complex and organizes the cytomatrix at nerve terminal active zones, regulating neurotransmitter release and vesicle trafficking. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be severely pathogenic.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.54

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429