PHYH
entrez
5264
canonical
uniprot
O14832
canonical
ensembl
ENSG00000107537
resolver
ensp
ENSP00000263038
resolver
ensp
ENSP00000380121
resolver
ensp
ENSP00000380126
resolver
ensp
ENSP00000664061
resolver
genesymbol
PHYH
resolver
genesymbol_syn
PAHX
resolver
hgnc
HGNC:8940
resolver
uniprot
A8MTS8
resolver
uniprot
B1ALH5
resolver
uniprot_entry
PAHX_HUMAN
resolver
uniprot_sec
A8MTS8
resolver
uniprot_sec
B1ALH5
resolver
amino_acid_sequence
MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL
uniprot
proteins
disease_involvement
DISEASE: Refsum disease (RD) [MIM:266500]: A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment. {ECO:0000269|PubMed:10709665, ECO:0000269|PubMed:10767344, ECO:0000269|PubMed:14974078, ECO:0000269|PubMed:9326939, ECO:0000269|PubMed:9326940}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.11.18
uniprot
proteins
function
FUNCTION: Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms) (PubMed:10744784, PubMed:12031666, PubMed:12923223, PubMed:9326939). Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl- and 4-methyl-branched acyl-CoAs (PubMed:10744784, PubMed:12923223). {ECO:0000269|PubMed:10744784, ECO:0000269|PubMed:12031666, ECO:0000269|PubMed:12923223, ECO:0000269|PubMed:9326939}.
uniprot
proteins
mass_dalton
38538
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid metabolism.
uniprot
proteins
protein_family
PhyH family
uniprot
proteins
pubmed
10051602
uniprot
proteins
pubmed
10686344
uniprot
proteins
pubmed
10709665
uniprot
proteins
pubmed
10744784
uniprot
proteins
pubmed
10767344
uniprot
proteins
pubmed
12031666
uniprot
proteins
pubmed
12923223
uniprot
proteins
pubmed
14974078
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16186124
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
9326939
uniprot
proteins
pubmed
9326940
uniprot
proteins
sequence_length
338
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:9326939}.
uniprot
proteins