• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CLPP (HGNC:2084) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
caseinolytic mitochondrial matrix peptidase proteolytic subunit
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
37.05(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.57(Read more about gnomAD pLI score)
LOEUF
0.57(Read more about gnomAD LOEUF score)
Cytoband
19p13.3
Genomic Coordinates
GRCh37/hg19: chr19:6361542-6370253 NCBI Ensembl UCSC
GRCh38/hg38: chr19:6361531-6370242 NCBI Ensembl UCSC
MANE Select Transcript
NM_006012.4 ENST00000245816.11 (Read more about MANE Select)
Function
Protease component of the Clp complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The Clp complex can degrade CSN1S1, CSN2 and CSN3, as well as synthetic peptides (in vitro) and may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates (PubMed:11923310, PubMed:15522782). Cleaves PINK1 in the mitochondrion (PubMed:22354088). {ECO:0000269|PubMed:1192... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7380
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/06/2018

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variation in CLPP has been reported in individuals with autosomal recessive (AR) Perrault syndrome, which is definted as sensorineural hearing loss (SNHL) in males, and SNHL with premature ovarian failure in females. Additional clinical features have been reported by Jenkinson et al. 2013 23541340. Furthermore, the overall evidence that CLPP, when altered, causes Perrault has been assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)