Property Summary

NCBI Gene PubMed Count 23
Grant Count 2
Funding $44,402.33
PubMed Score 21.30
PubTator Score 29.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 1.600 0.000
ovarian cancer -1.400 0.000

Synonym

Accession O00623 B2R6M2
Symbols PAF-3
PBD3A

Gene

PANTHER Protein Class (1)

 Grant Application (2)

Gene RIF (4)

PMID Text
19105186 the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX12 gene.
17534573 Highly probable candidate gene for direct sequencing in the context of a peroxisomal biogenesis disorder with a mild clinical phenotype, mosaicism and minimally abnormal peroxisomal parameters in fibroblasts.
15241794 A single missense mutation was found in PEX12 in eight neonatal adrenoleukodystrophy, and infantile Refsum disease patients With Peroxisomal Mosaicism.
12456682 examination of role in PEX5 binding of PTS1

AA Sequence

MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLL      1 - 70
QQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREE     71 - 140
DEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQA    141 - 210
LEHKPAKASMMQQPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALP    211 - 280
TPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQH    281 - 350
LIKLYSPEN                                                                 351 - 359
//

Text Mined References (22)

PMID Year Title
21525035 2011 PEX14 is required for microtubule-based peroxisome motility in human cells.
19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
17534573 2007 A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
16813573 2006 The Arabidopsis pex12 and pex13 mutants are defective in both PTS1- and PTS2-dependent protein transport to peroxisomes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15241794 2004 Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14571262 2004 Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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