Identity
HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
Alpha-MPP,CLA1,CPD3,INPP5E,MAS2,P-55,SCAR2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23203
MIM: 613036
HGNC: 18667
Ensembl: ENSG00000165688
Variants:
dbSNP: 23203
ClinVar: 23203
TCGA: ENSG00000165688
COSMIC: PMPCA
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165688 | ENST00000371717 | Q10713 |
| ENSG00000165688 | ENST00000399219 | Q10713 |
| ENSG00000165688 | ENST00000444897 | Q5SXN9 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism of proteins | REACTOME | R-HSA-392499 |
| Mitochondrial protein import | REACTOME | R-HSA-1268020 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35885985 | 2022 | Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy. | 1 |
| 35885985 | 2022 | Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy. | 1 |
| 32491259 | 2021 | Functional coupling of presequence processing and degradation in human mitochondria. | 8 |
| 33272776 | 2021 | A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants. | 8 |
| 32491259 | 2021 | Functional coupling of presequence processing and degradation in human mitochondria. | 8 |
| 33272776 | 2021 | A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants. | 8 |
| 25808372 | 2015 | PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. | 32 |
| 25808372 | 2015 | PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. | 32 |
| 24903103 | 2014 | OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase. | 40 |
| 24903103 | 2014 | OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase. | 40 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 15671101 | 2005 | A polymorphism exon 1 variant at the locus of the scavenger receptor class B type I (SCARB1) gene is associated with differences in insulin sensitivity in healthy people during the consumption of an olive oil-rich diet. | 13 |
| 15671101 | 2005 | A polymorphism exon 1 variant at the locus of the scavenger receptor class B type I (SCARB1) gene is associated with differences in insulin sensitivity in healthy people during the consumption of an olive oil-rich diet. | 13 |
Citation
Dessen P
PMPCA (peptidase, mitochondrial processing subunit alpha)
Atlas Genet Cytogenet Oncol Haematol. 2015-02-01
Online version: http://atlasgeneticsoncology.org/gene/55081/pmpca-(peptidase-mitochondrial-processing-subunit-alpha)
