Gene: CTNNBL1

Alternate names for this Gene: C20orf33|NAP|P14L|PP8304|dJ633O20.1

Gene Summary: The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.23

Description of this Gene: catenin beta like 1

Type of Gene: protein-coding

rs16986921 in CTNNBL1 gene and Body mass index procedure PMID 18325910 2008 Genome-wide association scans identified CTNNBL1 as a novel gene for obesity.

PMID 18325910 2008 The SNP rs6013029 minor allele T confers an average increase in BMI and fat mass of 2.67 kg/m(2) and 5.96 kg, respectively, compared with the alternative allele G. We further genotyped the five most significant CTNNBL1 SNPs in a French case-control sample comprising 896 class III obese adults (BMI > or = 40 kg/m(2)) and 2916 lean adults (BMI < 25 kg/m(2)).

rs4811196 in CTNNBL1 gene and Bone Density PMID 17903296 2007 Genome-wide association with bone mass and geometry in the Framingham Heart Study.

rs4811196 in CTNNBL1 gene and Bone Mineral Density Test PMID 17903296 2007 Genome-wide association with bone mass and geometry in the Framingham Heart Study.

rs16986921 in CTNNBL1 gene and Finding of body mass index PMID 18325910 2008 Genome-wide association scans identified CTNNBL1 as a novel gene for obesity.

rs16986921 in CTNNBL1 gene and Malignant neoplasm of prostate PMID 18264096 2008 Multiple loci identified in a genome-wide association study of prostate cancer.

rs16986890 in CTNNBL1 gene and Memory performance PMID 22105620 2013 A genome-wide survey and functional brain imaging study identify CTNNBL1 as a memory-related gene.