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
rs138410949 in
KIF7 gene and
Acrocallosal Syndrome
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
PMID 26174511 2015 Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.
PMID 23125460 2012 Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
PMID 29321670 2018 Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
rs137905815 in
KIF7 gene and
Bardet-Biedl syndrome 1 (disorder)
PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
rs781752990 in
KIF7 gene and
Dysmorphic features
PMID 23125460 2012 Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
PMID 21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
PMID 9066878 1997 Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.
PMID 22587682 2012 A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
PMID 25714560 2015 A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.
PMID 14738752 2004 Hedgehog signaling: Costal-2 bridges the transduction gap.
PMID 7424976 1980 Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.
PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
rs781752990 in
KIF7 gene and
Multiple congenital anomalies
PMID 25714560 2015 A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.
PMID 9066878 1997 Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.
PMID 7424976 1980 Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.
PMID 23125460 2012 Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
PMID 14738752 2004 Hedgehog signaling: Costal-2 bridges the transduction gap.
PMID 21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
PMID 22587682 2012 A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.