Gene: KIF7
Alternate names for this Gene: ACLS|AGBK|HLS2|JBTS12|UNQ340
Gene Summary: 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.
Gene is located in Chromosome: 15
Location in Chromosome : 15q26.1
Description of this Gene: kinesin family member 7
Type of Gene: protein-coding
Gene: TICRR
Alternate names for this Gene: C15orf42|SLD3|Treslin
Gene Summary: Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010].
Gene is located in Chromosome: 15
Location in Chromosome : 15q26.1
Description of this Gene: TOPBP1 interacting checkpoint and replication regulator
Type of Gene: protein-coding
rs1567057019 in
KIF7;TICRR gene and
Acrocallosal Syndrome
PMID 21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
PMID 19666503 2009 Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling.
PMID 26648833 2015 Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.