CLP1 Chromosome 11
Cleavage factor polyribonucleotide kinase subunit 1
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What This Gene Does
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. [provided by RefSeq, Sep 2014]
Associated Conditions (3)
Inborn genetic diseases
Pontocerebellar hypoplasia type 10
Pontoneocerebellar hypoplasia
Key Variants
RS150146614
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1945853889
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 10, Pontocerebellar hypoplasia type 10
Health Risk
RS587777616
Pathogenic/Likely pathogenic
Pontocerebellar hypoplasia type 10, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 10
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150146614 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1945853889 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 10, Pontocerebellar hypoplasia type 10 |
| RS587777616 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 10, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 10 |