Gene Symbol | PMPCA |
Entrez Gene ID | 23203 |
Full Name | peptidase, mitochondrial processing alpha subunit |
Synonyms | Alpha-MPP,CLA1,CPD3,INPP5E,P-55,SCAR2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Spinocerebellar ataxia, autosomal recessive 2, 213200 (3) |