Background:This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
仕様
Synonyms:LN1,LNAP1,LNAP1,mouse,homolog of,OTTHUMP00000019131,OTTHUMP00000019132,OTTHUMP00000179083,OTTHUMP00000216226,PAHX,PAHX,peroxisomal,PhyH,PHYH1,Phytanic acid oxidase,phytanoil-CoA alpha hydroxylase,phytanoyl CoA 2 hydroxylase,Phytanoyl CoA 2 oxoglutarate dioxygenase,Phytanoyl CoA alpha hydroxylase,Phytanoyl CoA dioxygenase,Phytanoyl CoA dioxygenase peroxisomal,Phytanoyl-CoA alpha-hydroxylase,Phytanoyl-CoA dioxygenase,RD
Host:Rabbit
Reactivity:Human,Mouse
Applications:WB,IF
Concentration:1mg/ml
Immunogen:Recombinant protein of human PHYH
Purification Method:Affinity purification
Clonality:Polyclonal
Conjugation:Unconjugated
Buffer:Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Dilution:WB1:500 - 1:2000 IF1:10 - 1:100
Gene_ID(human):5264
Swissprot:O14832
Isotype:IgG
Research Areas:Cancer, Metabolism, Neuroscience, Signal transduction