Gene : PEX12

Symbol :	PEX12
Name/description :	peroxisomal biogenesis factor 12
Synonyms :	PAF-3
Organism :	Homo sapiens
Peroxisomal Localization :	GO: peroxisome K Okumoto, et al.1997. Nat. Genet. South South, et al.1999. J. Cell Biol. Chang Chang, et al.1999. J. Cell Biol. Harper Harper, et al.2003. J. Biol. Chem. GFP: No experiment found Mass Spectrometry: No experiment found PeroxisomeDB annotation
Protein family :	PEX12
Protein consensus sequence :	PEX19=0.046; start position=114; end position=123; PEX19=0.058; start position=59; end position=68; PEX19=0.078; start position=252; end position=261; MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN
Functional category(ies) :	Peroxisome matrix protein import ZN RING proteins
Disease(s) :	Zellweger syndrome Neonatal adrenoleukodystrophy Infantile Refsum disease
Comparative genomics:	PTS prediction Blastp PsiBlast Alignment Phylogenetic tree [help] PhylomeDB
Gene Info:	Gene Summary (NCBI) Genome Browser (UCSC) Chromosomal Localization (NCBI) ENSEMBL SNPs (NCBI) Intron/Exon (Ace View: NCBI) Gene Expression (UCSC) Protein Properties (UCSC) Conserved Domains (NCBI) Orthologue Prediction (NCBI)
Pubmed:	Avraham Zeharia, et al.2007. J. Hum. Genet. 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. Cindy Krause, et al.2006. Hum. Mutat. Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. Jeannette Gootjes, et al.2004. Hum. Mutat. 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. J Gootjes, et al.2004. Neurology Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. Jeannette Gootjes, et al.2004. Eur. J. Hum. Genet. Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. Harper Harper, et al.2003. J. Biol. Chem. PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12. Masanori Honsho, et al.2002. J. Biol. Chem. The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly.