Gene : PXMP3

Symbol :	PXMP3
Name/description :	peroxin 2
Synonyms :	PAF1, PEX2, PMP3, PAF-1, PMP35, RNF72
Organism :	Homo sapiens
Peroxisomal Localization :	GO: integral to peroxisomal membrane N Shimozawa, et al.1992. Science Martina Biermanns, et al.2003. Eur. J. Cell Biol. GFP: No experiment found Mass Spectrometry: No experiment found PeroxisomeDB annotation
Protein family :	PEX2
Protein consensus sequence :	PEX19=0.0019; start position=201; end position=210; PEX19=0.0088; start position=149; end position=158; PEX19=0.015; start position=139; end position=148; MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQRGKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL
Functional category(ies) :	Peroxisome matrix protein import ZN RING proteins
Disease(s) :	Zellweger syndrome 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:	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. Pediatr. Res. Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. C Fujiwara, et al.2000. J. Biol. Chem. Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder. M Ito, et al.2000. Biochim. Biophys. Acta Rapid isolation and characterization of CHO mutants deficient in peroxisome biogenesis using the peroxisomal forms of fluorescent proteins. S Chang, et al.1999. J. Cell. Sci. Metabolic control of peroxisome abundance. G Dodt, et al.1996. J. Cell Biol. Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor.