Gene : PHYH

Symbol :	PHYH
Name/description :	phytanoyl-CoA 2-hydroxylase
Synonyms :	RD, LN1, PAHX, LNAP1, PHYH1
Organism :	Homo sapiens
Peroxisomal Localization :	GO: peroxisome C Jansen, et al.1996. Biochem. Biophys. Res. Commun. GFP: No experiment found Mass Spectrometry: No experiment found PeroxisomeDB annotation
Protein family :	PHYH
Protein consensus sequence :	PTS2=1.9e-008; start position=9; end position=17; MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL
Functional category(ies) :	Alpha-oxidation Branched chain fatty acid oxidation
Disease(s) :	Refsum disease
Comparative genomics:	PTS prediction Blastp PsiBlast Alignment Phylogenetic tree [help] PhylomeDB Enzyme reaction data
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:	Jansen Jansen, et al.2004. Hum. Mutat. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).