Peptidase, Mitochondrial Processing, Alpha

Alternative Names

  • PMPCA
  • Mitochondrial Processing Peptidase-Alpha
  • KIAA0123
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OMIM Number

613036

NCBI Gene ID

23203

Uniprot ID

Q10713

Length

13,189 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Mitochondrial-Processing Peptidase Subunit Alpha

Molecular Mass

58253 Da

Amino Acid Count

525

Genomic Location

chr9:136,410,573-136,423,761

Gene Map Locus
9q34.3

Description

The PMPCA gene encodes the alpha subunit of a mitochondrial heterodimer protein. This protein functions as a mitochondrial processing protease and is responsible for the cleavage and maturation of precursor proteins. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015160.3:c.1066G>ALebanonchr9:136418630PathogenicPathogenicSpinocerebellar Ataxia, Autosomal Recessive 2NG_046789.1:g.13058G>A; NM_015160.3:c.1066G>A; NP_055975.1:p.Gly356Ser768643552221553
NM_015160.3:c.1129G>ALebanonchr9:136418847PathogenicPathogenicSpinocerebellar Ataxia, Autosomal Recessive 2NG_046789.1:g.13275G>A; NM_015160.3:c.1129G>A; NP_055975.1:p.Ala377Thr753611141221552
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