Logo
full name
phytanoyl-CoA 2-hydroxylase

synonyms
LN1, LNAP1, PAHX, PHYH1, RD, PHYH, ENSG00000107537

HGNC
HGNC:8940

Entrez Gene
Gene:5264

ENSEMBL
ENSG00000107537

location
chr: 10
start: 13319796
stop: 13342133
strand: -

OMIM
OMIM:602026: PHYH (Autosomal recessive inheritance)
OMIM:266500: Refsum disease

transcripts
NM_006214.3
NM_001037537.1

pathways
Alpha-oxidation of phytanate [NCBI:1270032] [REACTOME:R-HSA-389599] [PUBMED:12633678] [PUBMED:4177872]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Peroxisomal lipid metabolism [NCBI:1270031] [REACTOME:R-HSA-390918] [PUBMED:16756494]
Peroxisome [NCBI:131226] [KEGG:hsa04146] [PUBMED:17055079] [PUBMED:16631601] [PUBMED:17055078] [PUBMED:17010456]
fatty acid alpha-oxidation [NCBI:703094] [BIOCYC:HUMAN_PWY66-387] [PUBMED:10198260] [PUBMED:15644336] [PUBMED:16186124] [PUBMED:17956236] [PUBMED:7692128] [PUBMED:10468558] [PUBMED:11341778] [PUBMED:21683154] [PUBMED:10191284] [PUBMED:8978480] [PUBMED:9276483] [PUBMED:16799769] [PUBMED:22517924] [PUBMED:9662422] [PUBMED:9469587] [PUBMED:17510064] [PUBMED:20558530] [PUBMED:15863841] [PUBMED:21708296] [PUBMED:15337768] [PUBMED:20026285]