CCDC140

Chr 2

CCDC140 long non-coding RNA

NCBI Gene: 151278 ENSG00000163081 UniProt: Q96MF4

CCDC140 encodes a coiled-coil domain-containing protein that localizes to the cytoplasm and is involved in cellular organization and protein-protein interactions. Mutations cause autosomal recessive cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ syndrome), characterized by early-onset cerebellar ataxia, intellectual disability, and balance problems. This condition follows autosomal recessive inheritance and primarily affects the central nervous system with onset in early childhood.

Research

This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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