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

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

rs1561892336 in CUL7;KLC4 gene and Abnormality of the elbow PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Bulbous nose PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Delayed bone age PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Frontal bossing PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Hypoplastic pelvis PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Increased vertebral height PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Intrauterine retardation PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Joint hyperflexibility PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Long narrow head PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561881909 in CUL7;KLC4 gene and Long philtrum PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Lordosis PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Miller-McKusick-Malvaux-Syndrome (3M Syndrome) PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Pointed chin PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561881909 in CUL7;KLC4 gene and Scoliosis, unspecified PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561881909 in CUL7;KLC4 gene and Short neck PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Short stature PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Short thorax PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Slender long bone PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Small midface PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Thin rib PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Triangular face PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.