PHYH - phytanoyl-CoA 2-hydroxylase Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5264

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	References	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	References	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	References	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

PHYH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PHYH	O14832	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	25910212
Intra	PHYH	O14832	FAM9B	Homo sapiens	Q8IZU0	Y2H Array	31515488
Intra	PHYH	O14832	FAM9B	Homo sapiens	Q8IZU0	Y2H Bait-Prey Pool	25910212
Intra	PHYH	O14832	FAM9B	Homo sapiens	Q8IZU0	Y2H Array	25910212
Intra	PHYH	O14832	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	25416956
Intra	PHYH	O14832	INADL	Homo sapiens	A5PKX9	Y2H Array	32296183
Intra	PHYH	O14832	INADL	Homo sapiens	A5PKX9	Y2H Prey Pooling	32296183
Intra	PHYH	O14832	MAGEA11	Homo sapiens	P43364	Y2H Array	32296183
Intra	PHYH	O14832	MAGEA11	Homo sapiens	P43364	Y2H Prey Pooling	32296183
Intra	PHYH	O14832	MAGEA11	Homo sapiens	P43364	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PHYH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76544	PHYH Protein, Human	O14832-1 (S31-L338)	≥ 95%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10457	PHYH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19365	Phyh Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25857	Phyh Rat Pre-designed siRNA Set A	Pre-designed Set	/	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