CLPX Chromosome 15
Caseinolytic mitochondrial matrix peptidase chaperone subunit X
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What This Gene Does
The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two hexameric rings of the chaperone subunit encoded by this gene. Targeted proteins are unwound by this protein and then passed on to the CLPP subunit for degradation. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"AAA ATPases|Mitochondrial nucleoid associated proteins"
Locus Type
gene with protein product
Location
15q22.31
Ensembl
ENSG00000166855
Associated Conditions (3)
Protoporphyria
erythropoietic
2
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149270152 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS35754835 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555412542 | Health Risk | Likely pathogenic | Protoporphyria, erythropoietic, 2 |