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

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

rs202195179 in TICRR;KIF7 gene and Acrocallosal Syndrome PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

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.