KIF24

Chr 9

kinesin family member 24

Also known as: C9orf48, bA571F15.4

NCBI Gene: 347240 ENSG00000186638 UniProt: Q5T7B8 OMIM: 613747

The protein is a microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by controlling microtubule polymerization at the mother centriole and mediating recruitment of centriolar proteins. Mutations cause autosomal recessive neurodevelopmental disorder with spastic paraplegia, microcephaly, and seizures, reflecting the critical role of proper cilia regulation in brain development. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the kinesin superfamily of microtubule-based motor proteins which are involved in the intracellular transport of membranous organelles, protein complexes, and mRNAs. They also play critical roles in mitosis, morphogenesis, and signal transduction. The encoded protein contains an N-terminal sterile alpha motif (SAM) domain and an ATP-binding kinesin motor domain. It binds centriolar coiled coil protein 110 and centrosomal protein 97 and localizes to the mother centriole to regulate ciliogenesis by controlling microtubule polymerization. [provided by RefSeq, Mar 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.89

LOEUF

Mechanism· predicted