Gene Symbol | KIF7 |
Entrez Gene ID | 374654 |
Full Name | kinesin family member 7 |
Synonyms | ACLS,AGBK,HLS2,JBTS12,UNQ340 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Oct 2011]. |
Disorder MIM: | |
Disorder Html: | ?Hydrolethalus syndrome 2, 614120 (3); Acrocallosal syndrome, 200990 (3); Joubert syndrome 12, 200990 (3); ?Al-Gazali-Bakalinova syndrome, 607131 (3) |