Gene: KLC4
Alternate names for this Gene: KNSL8|bA387M24.3
Gene Summary:
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.1
Description of this Gene: kinesin light chain 4
Type of Gene: protein-coding
Gene: CUL7
Alternate names for this Gene: 3M1|CUL-7|KIAA0076|dJ20C7.5
Gene Summary: The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.1
Description of this Gene: cullin 7
Type of Gene: protein-coding
rs61752334 in
KLC4;CUL7 gene and
Three M Syndrome 1
PMID 23018678 2012 Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
PMID 21364696 2011 Clinical utility gene card for: 3M syndrome.
PMID 17675530 2007 Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.
PMID 16142236 2005 Identification of mutations in CUL7 in 3-M syndrome.