Property Summary

NCBI Gene PubMed Count 43
Grant Count 14
R01 Count 6
Funding $2,142,875
PubMed Score 109.02
PubTator Score 71.99

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma -1.414 0.000
glioblastoma -1.100 0.001
adrenocortical carcinoma -1.003 0.004
tuberculosis 1.100 0.000
pancreatic ductal adenocarcinoma liver m... -1.596 0.008
intraductal papillary-mucinous adenoma (... 1.500 0.003
lung cancer 4.500 0.000
interstitial cystitis -1.200 0.002
inflammatory breast cancer -1.200 0.008
ovarian cancer -2.300 0.000

 GWAS Trait (1)

Gene RIF (16)

PMID Text
25636094 Ten propionic acidemia mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene
24863100 Two PCCA mutations, c.229C-->T (p.R77W) and c.1262A-->C (p.Q421P), were identified in a PCCA-deficient patient.
24464666 Mutation analysis of the PCCA gene identified homozygous c.1284+1G>A in patient 1, c.230G>A (p.R77Q) and c.1855C>T (p.R619X) in patient 2, homozygous c.2125T>C (p.S709P) in patient 3, and only one mutant allele, c.231+1G>T in patient 4.
22156789 Thsi study presented that Propionic acidemia(PCCA mutation) associated with visual hallucinations
20877624 Observational study of gene-disease association. (HuGE Navigator)
20725044 cryo-electron microscopy (cryo-EM) reconstruction at 15-A resolution
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19296078 Activities of propionyl-CoA carboxylase were not significantly different in pancreatic islets of patients with type 2 diabetes from those of the control.
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AA Sequence

MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVAN      1 - 70
RGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVH     71 - 140
PGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAR    141 - 210
EIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHG    211 - 280
NALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEM    281 - 350
NTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQY    351 - 420
QEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVII    421 - 490
NSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE    491 - 560
LSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFL    561 - 630
GTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMT    631 - 700
AGKTGTVKSVHCQAGDTVGEGDLLVELE                                              701 - 728
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Text Mined References (46)

PMID Year Title
25636094 2015 [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
24863100 2014 Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
24464666 2014 Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
22156789 2012 Propionic acidemia associated with visual hallucinations.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20725044 2010 Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
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