PHYH - phytanoyl-CoA 2-hydroxylase Gene

Homo sapiens

Also known as RD; LN1; PAHX; LNAP1; PHYH1

Gene ID: 5264 | Gene type: protein coding

About PHYH

Cytogenetic location: 10p13 Genomic coordinates (GRCh38): 10:13,277,799-13,300,064 (from NCBI)

This gene has 7 transcripts (splice variants), 222 orthologues and is associated with 3 phenotypes. Broad expression in liver (RPKM 137.6), kidney (RPKM 65.7) and 17 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

PHYH Products(6)

mRNA	Protein	Name
NM_001037537.2	NP_001032626.1	phytanoyl-CoA dioxygenase, peroxisomal isoform b
NM_001323080.2	NP_001310009.1	phytanoyl-CoA dioxygenase, peroxisomal isoform b
NM_001323082.2	NP_001310011.1	phytanoyl-CoA dioxygenase, peroxisomal isoform c precursor
NM_001323083.2	NP_001310012.1	phytanoyl-CoA dioxygenase, peroxisomal isoform d precursor
NM_001323084.2	NP_001310013.1	phytanoyl-CoA dioxygenase, peroxisomal isoform e
NM_006214.4	NP_006205.1	phytanoyl-CoA dioxygenase, peroxisomal isoform a precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables L-ascorbic acid binding	IDA IDA: Inferred from direct assay	10744784	GOA
enables carboxylic acid binding	IDA IDA: Inferred from direct assay	16186124	GOA
enables ferrous iron binding	IDA IDA: Inferred from direct assay	9326939	GOA
enables phytanoyl-CoA dioxygenase activity	IDA IDA: Inferred from direct assay	9326939	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9326939	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in 2-oxoglutarate metabolic process	IDA IDA: Inferred from direct assay	16186124	GOA
involved in fatty acid alpha-oxidation	IDA IDA: Inferred from direct assay	9326939	GOA
involved in isoprenoid metabolic process	IDA IDA: Inferred from direct assay	11555634	GOA
involved in methyl-branched fatty acid metabolic process	IDA IDA: Inferred from direct assay	10744784	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in 9+0 non-motile cilium	IDA IDA: Inferred from direct assay	29257953	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	9326939	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PHYH Protein Structure

PhyH

0
100
200
300
338 a.a.

Protein Preferred Names

Protein Names

phytanoyl-CoA dioxygenase, peroxisomal

phytanic acid oxidase

Recombinant PHYH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76544	PHYH Protein, Human	O14832-1 (S31-L338)	≥95%

Related Diseases

Diseases

Alias

Refsum Disease, Classic

Refsum Disease	Heredopathia Atactica Polyneuritiformis
Phytanic Acid Oxidase Deficiency	Hmsn Iv
Refsum Disease, Adult, 1	Refsum'S Disease
Phytanic Acid Storage Disease	Hereditary Motor And Sensory Neuropathy Iv
Hmsn4	Hmsn Type Iv
Hmsn 4	Adult Refsum Disease
Classic Refsum Disease	Hereditary Motor And Sensory Neuropathy Type Iv
Refsum Syndrome	Hsmn Iv
Disorder Of Cornification 11	Doc 11
Hereditary Sensory And Motor Neuropathy Type 4	Hypertrophic Neuropathy Of Refsum
Ard	Crd
Hereditary Motor And Sensory Neuropathy Type 4	Phytanic-Coa Hydroxylase Deficiency
RD

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic	Rcdp
Chondrodysplasia Punctata, Rhizomelic Form	Rcp
Chondrodysplasia Punctata Rhizomelic

Orofacial Cleft 1

OFC1	Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 1
Orofacial Cleft, Nonsyndromic	Ofc
Cleft Lip/Palate, Nonsyndromic	Orofacial Cleft-1
Nonsyndromic Cleft Lip With Or Without Cleft Palate 1	Nonsyndromic Cleft Lip Palate
Otofaciocervical Syndrome 1

Rhizomelic Chondrodysplasia Punctata, Type 2

Rhizomelic Chondrodysplasia Punctata Type 2	Dihydroxyacetonephosphate Acyltransferase Deficiency
RCDP2	Dhapat Deficiency
Glyceronephosphate O-Acyltransferase Deficiency	Gnpat Deficiency
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency	Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
Chondrodysplasia Punctata, Rhizomelic, Type 2	Rhizomelic Chondrodysplasia Punctata 2

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Null-Cell Leukemia

Null Cell Acute Lymphoblastic Leukemia	Null Cell Acute Lymphoblastic Leukaemia
Null-Cell Leukaemia

Chronic Polyneuropathy

Aleutian Mink Disease

Aleutian Disease

Ichthyosis Vulgaris

Ichthyosis Simplex	Dominant Congenital Ichthyosiform Erythroderma
Common Ichthyosis	Fish Scale Disease
VI	Ichthyoses
Congenital Ichthyosis

Hodgkin'S Lymphoma, Mixed Cellularity

Hodgkin'S Disease, Mixed Cellularity	Hodgkins Lymphoma, Mixed Cellularity
Mixed Cellularity Hodgkin Lymphoma

Inflamed Seborrheic Keratosis

Hodgkin'S Lymphoma, Lymphocytic-Histiocytic Predominance

Hodgkin Disease	Hodgkin Lymphoma, Lymphocyte-Rich
Hodgkin Lymphoma, Lymphocytic-Histiocytic Predominance	Hodgkin'S Disease, Lymphocyte Predominance
Lymphocyte Rich Hodgkin'S Disease	Lymphocyte Rich Classical Hodgkin Lymphoma

Noonan Syndrome 11

NS11

Cortical Deafness

Alpha-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

AMACRD

Rhizomelic Chondrodysplasia Punctata, Type 1

Rhizomelic Chondrodysplasia Punctata Type 1	RCDP1
Peroxisome Biogenesis Disorder 9	Pbd9
Chondrodysplasia Punctata, Rhizomelic Form	Cdpr
Chondrodystrophia Calcificans Punctata	Rhizomelic Chondrodysplasia Punctata 1
Chondrodysplasia Punctata, Rhizomelic, Type 1	Chondrodysplasia Punctata, Rhizomelic

Peripheral Nerve Schwannoma

Pseudopterygium

Encephalitozoonosis

Infection By Encephalitozoon

Testicular Infarct

Infarction Of Testis

Testicular Infarction

Noonan Syndrome 12

NS12

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Chondrodysplasia Punctata Syndrome

Chondrodysplasia Punctata	Chondrodysplasia Punctata Congenita
Toriello Higgins Miller Syndrome	Chondrodysplasia Punctata, Toriello Type
Toriello-Higgins-Miller Syndrome	Cdp
Chondrodysplasia Punctata, X-Linked Dominant Type	Chondrodysplasia Punctata Group
Dysplasia Punctata Epiphysis	Dysplasia Punctata
Dysplasia Epiphysealis Punctata	Chondrodystrophy Of Punctata

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Follicular Lymphoma

Lymphoma, Follicular	Lymphoma Follicular
Brill-Symmers' Disease	Large Cell Follicular Non-Hodgkin Lymphoma
Diffuse Follicle Centre Lymphoma	Diffuse Follicular Lymphoma Nos
Follicular Nodular Non-Hodgkin Lymphoma, Unspecified	Follicular Large Cell Cleaved Or Noncleaved Lymphoma
Large Cell Follicular Noncleaved Lymphoma	Follicular Lymphoma With Or Without Diffuse Areas
Histiocytic Follicular Lymphoma	Histiocytic Nodular Lymphoma
Histiocytic Nodular Malignant Lymphoma	Large Cell Follicular Lymphoma
Large Cell Noncleaved Follicular Lymphoma	Large Cell Noncleaved Follicular Malignant Lymphoma
Nodular Reticulum Cell Sarcoma	Noncleaved Follicular Lymphoma

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10457	PHYH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PHYH	MGD	MGI:891978
Felis catus	PHYH	VGNC	VGNC:68832
Rattus norvegicus	PHYH	RGD	RGD:620317
Macaca mulatta	PHYH	VGNC	VGNC:75983
Others	PHYH	NCBI