Antibody Name:	Anti-PHYH Antibody
Antibody SKU:	CAB14041
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-338 of human PHYH (NP_006205.1).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Mouse, Rat
Positive Samples:

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-338 of human PHYH (NP_006205.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	MEQL RAAA RLQI VLGH LGRP SAGA VVAH PTSG TISS ASFH PQQF QYTL DNNV LTLE QRKF YEEN GFLV IKNL VPDA DIQR FRNE FEKI CRKE VKPL GLTV MRDV TISK SEYA PSEK MITK VQDF QEDK ELFR YCTL PEIL KYVE CFTG PNIM AMHT MLIN KPPD SGKK TSRH PLHQ DLHY FPFR PSDL IVCA WTAM EHIS RNNG CLVV LPGT HKGS LKPH DYPK WEGG VNKM FHGI QDYE ENKA RVHL VMEK GDTV FFHP LLIH GSGQ NKTQ GFRK AISC HFAS ADCH YIDV KGTS QENI EKEV VGIA HKFF GAEN SVNL KDIW MFRA RLVK GERT NL
Gene ID:	5264
Uniprot:	O14832
Cellular Location:	Peroxisome
Calculated MW:	27kDa/38kDa
Observed MW:	Refer to figures

Synonyms:

PHYH, LN1, LNAP1, PAHX, PHYH1, RD

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.

UniProt Protein Function:	PHYH: Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Defects in PHYH are a cause of Refsum disease (RD). RD is an autosomal recessive disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or third decade of life. Belongs to the PhyH family.
UniProt Protein Details:	Protein type:EC 1.14.11.18; Oxidoreductase Chromosomal Location of Human Ortholog: 10p13 Cellular Component: peroxisomal matrix; peroxisome Molecular Function:cofactor binding; phytanoyl-CoA dioxygenase activity; protein binding Biological Process: fatty acid alpha-oxidation; isoprenoid metabolic process Disease: Refsum Disease, Classic
NCBI 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]
UniProt Code:	O14832
NCBI GenInfo Identifier:	6093646
NCBI Gene ID:	5264
NCBI Accession:	O14832.1
UniProt Secondary Accession:	O14832,A8MTS8, B1ALH5,
UniProt Related Accession:	O14832
Molecular Weight:	27,291 Da
NCBI Full Name:	Phytanoyl-CoA dioxygenase, peroxisomal
NCBI Synonym Full Names:	phytanoyl-CoA 2-hydroxylase
NCBI Official Symbol:	PHYH
NCBI Official Synonym Symbols:	RD; LN1; PAHX; LNAP1; PHYH1
NCBI Protein Information:	phytanoyl-CoA dioxygenase, peroxisomal
UniProt Protein Name:	Phytanoyl-CoA dioxygenase, peroxisomal
UniProt Synonym Protein Names:	Phytanic acid oxidase; Phytanoyl-CoA alpha-hydroxylase; PhyH
Protein Family:	Phytanoyl-CoA dioxygenase
UniProt Gene Name:	PHYH
UniProt Entry Name:	PAHX_HUMAN