KIF7

Chr 15

kinesin family member 7

Also known as: ACLS, AGBK, HLS2, JBTS12, MMEDF, UNQ340

NCBI Gene: 374654 ENSG00000166813 UniProt: Q2M1P5

This gene encodes a kinesin family protein that regulates sonic hedgehog signaling by controlling GLI transcription factors at the primary cilium, acting as both a negative regulator to prevent inappropriate GLI2 activation and a positive regulator to prevent GLI3 processing into its repressor form. Mutations cause autosomal recessive ciliopathies including Joubert syndrome 12, acrocallosal syndrome, and potentially hydrolethalus syndrome 2 and Al-Gazali-Bakalinova syndrome. The pathogenic mechanism is predicted to involve gain-of-function effects that disrupt normal hedgehog pathway regulation.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBardet-Biedl syndrome

UniProtHydrolethalus syndrome 2

UniProtAcrocallosal syndrome

UniProtJoubert syndrome 12

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)

—

P/LP submissions

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P/LP missense

0.93

LOEUF

LOF

Mechanism· G2P

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GeneReview available — KIF7