CLPP |
- 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:
- Perrault syndrome 3 Monarch
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)