PMPCA gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol PMPCA
Gene name peptidase (mitochondrial processing) alpha
Chromosome 9
Chromosomal band q34.3
Imprinted Unknown
Genomic reference NC_000009.11
Transcript reference NM_015160.1, XM_005266059.1, XM_005266060.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 15, 2013
Date last updated June 26, 2018
Version PMPCA:180626

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 18667
Entrez Gene 23203
PubMed articles PMPCA
OMIM - Gene 613036
GeneCards PMPCA
GeneTests PMPCA

Active transcripts




NCBI ID     

NCBI Protein ID     

00002650 9 peptidase (mitochondrial processing) alpha NM_015160.1 NP_055975.1 2
00002648 9 transcript variant X2 XM_005266060.1 XP_005266117.1 1
00002649 9 transcript variant X1 XM_005266059.1 XP_005266116.1 1

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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium