Gene : PEX7

Symbol :	PEX7
Name/description :	peroxisomal biogenesis factor 7
Synonyms :	RD, PTS2R, RCDP1
Organism :	Homo sapiens
Peroxisomal Localization :	GO: peroxisome N Braverman, et al.1997. Nat. Genet. P Motley, et al.1997. Nat. Genet. Pedro Brites, et al.2003. Am. J. Hum. Genet. GFP: No experiment found Mass Spectrometry: No experiment found PeroxisomeDB annotation
Protein family :	PEX7
Protein consensus sequence :	MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLFRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGAVDCSLRGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLETVEHHTEFTCGLDFSLQSPTQVADCSWDETIKIYDPACLTIPA
Functional category(ies) :	Peroxisome biogenesis (peroxins) Peroxisome targeting sequence binding
Disease(s) :	Rhizomelic chondrodysplasia punctata type 1 (RCDP1 ) 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:	Gabriele Steinberg, et al.2006. Biochim. Biophys. Acta Peroxisome biogenesis disorders. Jansen Jansen, et al.2004. Hum. Mutat. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Nancy Braverman, et al.2002. Hum. Mutat. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Pedro Motley, et al.2002. Am. J. Hum. Genet. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. 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.