CLPP Chromosome 19
Caseinolytic mitochondrial matrix peptidase proteolytic subunit
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What This Gene Does
The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
AAA ATPases
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000125656
Associated Conditions (5)
Inborn genetic diseases
Perrault syndrome 3
Perrault syndrome 1
Perrault syndrome
Autosomal recessive hearing impairment with normal menstrual cycles
Key Variants
RS763687804
Conflicting classifications of pathogenicity
Health Risk
RS771668786
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS776759641
Conflicting classifications of pathogenicity
Health Risk
RS980193170
Conflicting classifications of pathogenicity
Perrault syndrome 3, Perrault syndrome 3
Health Risk
RS1049555823
Likely pathogenic
Health Risk
RS147589840
Likely pathogenic
Health Risk
RS1599193093
Likely pathogenic
Perrault syndrome 3, Perrault syndrome 3
Health Risk
RS2091852209
Likely pathogenic
Perrault syndrome 3, Perrault syndrome 3
Health Risk
RS2145048931
Likely pathogenic
Perrault syndrome 3, Perrault syndrome 3
Health Risk
RS780624187
Likely pathogenic
Perrault syndrome 3, Perrault syndrome 3
Health Risk
RS1555719766
Pathogenic
Perrault syndrome 3, Perrault syndrome 3
Health Risk
RS2091833124
Pathogenic
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS763687804 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771668786 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776759641 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS980193170 | Health Risk | Conflicting classifications of pathogenicity | Perrault syndrome 3, Perrault syndrome 3 |
| RS1049555823 | Health Risk | Likely pathogenic | — |
| RS147589840 | Health Risk | Likely pathogenic | — |
| RS1599193093 | Health Risk | Likely pathogenic | Perrault syndrome 3, Perrault syndrome 3 |
| RS2091852209 | Health Risk | Likely pathogenic | Perrault syndrome 3, Perrault syndrome 3 |
| RS2145048931 | Health Risk | Likely pathogenic | Perrault syndrome 3, Perrault syndrome 3 |
| RS780624187 | Health Risk | Likely pathogenic | Perrault syndrome 3, Perrault syndrome 3 |
| RS1555719766 | Health Risk | Pathogenic | Perrault syndrome 3, Perrault syndrome 3 |
| RS2091833124 | Health Risk | Pathogenic | — |
| RS2145051196 | Health Risk | Pathogenic | — |
| RS2512444496 | Health Risk | Pathogenic | Perrault syndrome 1, Perrault syndrome 1 |
| RS2512446307 | Health Risk | Pathogenic | — |
| RS398123033 | Health Risk | Pathogenic | Perrault syndrome 3, Perrault syndrome, Perrault syndrome 3 |
| RS398123034 | Health Risk | Pathogenic | Perrault syndrome 3, Perrault syndrome, Perrault syndrome 3 |
| RS398123035 | Health Risk | Pathogenic | Perrault syndrome 3, Autosomal recessive hearing impairment with normal menstrual cycles, Perrault syndrome |
| RS756490492 | Health Risk | Pathogenic | Perrault syndrome 3, Perrault syndrome 3 |
| RS909909437 | Health Risk | Pathogenic | — |