KIF4A

Chr X

kinesin family member 4A

Also known as: KIF4, KIF4G1, MRX100, TMDI, XLID100

NCBI Gene: 24137 ENSG00000090889 UniProt: O95239

This protein is an ATP-dependent motor protein that transports membranous organelles along microtubules and plays essential roles in chromosome segregation and cytokinesis during cell division. Mutations cause X-linked intellectual developmental disorder and dental abnormalities including taurodontism, microdontia, and dens invaginatus. The gene follows X-linked recessive inheritance and is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may also be involved in the organization of the central spindle prior to cytokinesis. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, X-linked 100

UniProtTaurodontism, microdontia, and dens invaginatus

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder with or without congenital anomalies · XLLimitednot for standalone diagnostic reporting

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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