Gene: CDK5RAP1

Alternate names for this Gene: C20orf34|C42|CGI-05|HSPC167

Gene Summary: This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.21

Description of this Gene: CDK5 regulatory subunit associated protein 1

Type of Gene: protein-coding

rs17124679 in CDK5RAP1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs291671 in CDK5RAP1 gene and Hair Color PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

rs291700 in CDK5RAP1 gene and Height PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

rs17124679 in CDK5RAP1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs291671 in CDK5RAP1 gene and melanoma PMID 18488026 2008 Common sequence variants on 20q11.22 confer melanoma susceptibility.