PMPCA peptidase, mitochondrial processing subunit alpha
Gene ID: 23203, updated on 10-Oct-2024Gene type: protein coding
Also known as: CLA1; CPD3; MAS2; P-55; SCAR2; INPP5E; Alpha-MPP
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- Go to complete Gene record for PMPCA
- Go to Variation Viewer for PMPCA variants
Summary
The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Autosomal recessive spinocerebellar ataxia 2 | See labs |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available |
Genomic context
- Location:
- 9q34.3
- Sequence:
- Chromosome: 9; NC_000009.12 (136410658..136423761)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PMPCA variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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