Gene: CDK5RAP3

Alternate names for this Gene: C53|HSF-27|IC53|LZAP|MST016|OK/SW-cl.114|PP1553

Gene Summary: This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.32

Description of this Gene: CDK5 regulatory subunit associated protein 3

Type of Gene: protein-coding

rs4794333 in CDK5RAP3 gene and Epilepsy, Generalized PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

rs886444 in CDK5RAP3 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.