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CCDC88C

coiled-coil and HOOK domain protein 88C
2 disorders 1 untyped 1 causative 14q32.11-q32.12 gene with protein product
HGNC:19967MonarchNCBI Gene 440193ENSG00000015133UniProt Q9P219OMIM 611204

Previous symbols: KIAA1509. Aliases: DAPLE, HkRP2, SCA40.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Congenital Hydrocephalus causative germline
mechanism: Neuroepithelial Planar Polarity and Apical Constriction Failure
subtype: HYC1
scoped to subtype: HYC1
Autosomal Dominant Cerebellar Ataxia Type I untyped
SCA40 CCDC88C variants
mechanism: Conventional Variant Signaling and Synaptic Dysfunction
subtype: SCA40
scoped to subtype: SCA40
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.