Property Summary

NCBI Gene PubMed Count 18
Grant Count 17
R01 Count 3
Funding $4,812,622.34
PubMed Score 74.84
PubTator Score 6.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus -1.200 0.001
ovarian cancer 1.800 0.000

Gene RIF (3)

PMID Text
25808372 study represents the first time that defects in PMPCA and mitochondrial processing peptidase have been described in association with a disease phenotype in humans.
24903103 OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase.
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAVVLAATRLLRGSGSWGCSRLRFGPPAYRRFSSGGAYPNIPLSSPLPGVPKPVFATVDGQEKFETKVT      1 - 70
TLDNGLRVASQNKFGQFCTVGILINSGSRYEAKYLSGIAHFLEKLAFSSTARFDSKDEILLTLEKHGGIC     71 - 140
DCQTSRDTTMYAVSADSKGLDTVVALLADVVLQPRLTDEEVEMTRMAVQFELEDLNLRPDPEPLLTEMIH    141 - 210
EAAYRENTVGLHRFCPTENVAKINREVLHSYLRNYYTPDRMVLAGVGVEHEHLVDCARKYLLGVQPAWGS    211 - 280
AEAVDIDRSVAQYTGGIAKLERDMSNVSLGPTPIPELTHIMVGLESCSFLEEDFIPFAVLNMMMGGGGSF    281 - 350
SAGGPGKGMFSRLYLNVLNRHHWMYNATSYHHSYEDTGLLCIHASADPRQVREMVEIITKEFILMGGTVD    351 - 420
TVELERAKTQLTSMLMMNLESRPVIFEDVGRQVLATRSRKLPHELCTLIRNVKPEDVKRVASKMLRGKPA    421 - 490
VAALGDLTDLPTYEHIQTALSSKDGRLPRTYRLFR                                       491 - 525
//

Text Mined References (22)

PMID Year Title
26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
24903103 2014 OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
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