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SCA40

Chr 14AD

coiled-coil and HOOK domain protein 88C

Also known as: DAPLE, HKRP2, HYC1, KIAA1509, SCA40

NCBI Gene: 440193 OMIM: 616053

The encoded protein is a coiled-coil domain-containing protein that negatively regulates the Wnt signaling pathway through interaction with dishevelled protein. Mutations cause spinocerebellar ataxia 40, inherited in an autosomal dominant pattern. The gene is also associated with autosomal recessive congenital hydrocephalus, indicating its importance in cerebrospinal fluid regulation and cerebellar function.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Spinocerebellar ataxia 40MIM #616053

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (2)

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