present in Gene: PMPCA
present in Chromosome: 9
Position on Chromosome: 136418848
Alleles of this Variant: C/T
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.