Gene: CLP1

Alternate names for this Gene: HEAB|hClp1

Gene Summary: This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.1

Description of this Gene: cleavage factor polyribonucleotide kinase subunit 1

Type of Gene: protein-coding

rs7117878 in CLP1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs587777616 in CLP1 gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 10 PMID 24766809 2014 Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

PMID 24766810 2014 CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.