Gene: PMPCA

Alternate names for this Gene: Alpha-MPP|CLA1|CPD3|INPP5E|MAS2|P-55|SCAR2

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: peptidase, mitochondrial processing subunit alpha

Type of Gene: protein-coding

rs963172852 in PMPCA gene and Movement Disorders PMID 11020385 2000 Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates.

PMID 22495024 2013 Processing peptidases in mitochondria and chloroplasts.

PMID 25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

PMID 9700204 1998 Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.

PMID 27148589 2016 Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

PMID 26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

rs963172852 in PMPCA gene and Muscle hypotonia PMID 11020385 2000 Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates.

PMID 27148589 2016 Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

PMID 25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

PMID 26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

PMID 22495024 2013 Processing peptidases in mitochondria and chloroplasts.

PMID 9700204 1998 Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.

rs746549806 in PMPCA gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 PMID 25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

PMID 26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

rs10870166 in PMPCA gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs11145974 in PMPCA gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.