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PHYH cDNA Clone – Phytanoyl-Coa 2-Hydroxylase (Human)

For Research Use Only. Not for use in diagnostic procedures. Catalog #: MBS1267960

MBS1267960 is a cDNA clone targeting PHYH. More details

$235 / 0.01 mg Plasmid + 0.2 mL Glycerol-Stock +1 FREE 8GB USB
Product Documentation
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Sample Manual Insert View PDF
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Testing Data View PDF
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Certificate of Analysis (COA) View PDF
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QC Report View PDF
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Material Safety Data Sheet View PDF
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Technical Datasheet View PDF
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Protocol View PDF

Product Overview

Online Datasheet in PDF
Product Name
PHYH, cDNA Clone
Full Product Name
PHYH cDNA Clone
Product Gene Name
PHYH cdna clone
Sequence
atggagcagc ttcgcgccgc cgcccgtctg cagattgttc tgggccacct cggccgcccc tcggccgggg ctgtcgtagc tcatcccact tcagggacta tttcctctgc cagtttccat cctcaacaat tccagtatac tctggataat aatgttctaa ccctggaaca gagaaaattt tatgaagaaa atgggtttct agtaatcaaa aatcttgtac ctgatgccga tattcaacgc tttcggaatg agtttgaaaa aatctgcaga aaggaggtga aaccattagg attaacagta atgagagatg tgaccatttc gaaatccgaa tatgctccaa gtgagaagat gatcacgaag gtccaggatt tccaggaaga taaggagctc ttcagatact gcactctccc cgagattctg aaatatgtgg agtgcttcac tggacctaat attatggcca tgcacacaat gttgataaac aaacctccag attctggcaa gaagacgtcc cgtcaccccc tgcaccagga cctgcactat ttccccttca ggcccagcga tctcatcgtt tgcgcctgga cggcgatgga gcacatcagc cggaacaacg gctgtctggt tgtgctccca ggcacacaca agggctccct gaagccccac gattacccca agtgggaggg gggagttaac aaaatgttcc acgggatcca ggactacgag gaaaacaagg cccgggtgca cctggtgatg gagaagggcg acactgtttt cttccatcct ttgctcatcc acggatctgg tcagaataaa acccagggat tccggaaggc aatttcctgc catttcgcca gtgccgattg ccactacatt gacgtgaagg gcaccagtca agaaaacatc gagaaggaag ttgtaggaat agcacataaa ttctttggag ctgaaaatag cgtgaacttg aaggatattt ggatgtttcg agctcgactt gtgaaaggag aaagaaccaa tctttga
Molecular Weight
27,291 Da
OMIM
266500
Vector
pENTR223.1 or pUC
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 9001:2015 Certified Laboratory.

Other Notes

Small volumes of PHYH cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Additional Details

NCBI/Uniprot data below describe general gene information for PHYH. It may not necessarily be applicable to this product.

NCBI GI #
20809598
NCBI GeneID
5264
NCBI Accession #
BC029512
UniProt Secondary Accession #
A8MTS8; B1ALH5
UniProt Related Accession #
O14832
NCBI Official Full Name
Homo sapiens phytanoyl-CoA 2-hydroxylase, mRNA
NCBI Official Synonym Full Names
phytanoyl-CoA 2-hydroxylase
NCBI Official Symbol
PHYH
NCBI Official Synonym Symbols
RD; LN1; PAHX; LNAP1; PHYH1
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 Synonym Gene Names
PAHX; PhyH
UniProt Entry Name
PAHX_HUMAN
NCBI Protein Information
phytanoyl-CoA dioxygenase, peroxisomal

NCBI Summary for PHYH

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]
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UniProt Comments for PHYH

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.

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
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Research Articles on PHYH

1. Observational study of gene-disease association. (HuGE Navigator)

Precautions

All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.

Disclaimer

While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.

Product Note

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual, it is intended to serve as an example only. Please refer to the instructions For Use provided with the assay kit for precise details.

Product PubMed Publications

Pathways associated with PHYH cdna clone

 Products by Pathway  Pathway Diagram
 Alpha-oxidation Of Phytanate Pathway antibodies  Alpha-oxidation Of Phytanate Pathway Diagram
 Metabolism Pathway antibodies  Metabolism Pathway Diagram
 Metabolism Of Lipids And Lipoproteins Pathway antibodies  Metabolism Of Lipids And Lipoproteins Pathway Diagram
 Peroxisomal Lipid Metabolism Pathway antibodies  Peroxisomal Lipid Metabolism Pathway Diagram
 Peroxisome Pathway antibodies  Peroxisome Pathway Diagram
 Peroxisome Pathway antibodies  Peroxisome Pathway Diagram
 Fatty Acid Alpha-oxidation II Pathway antibodies  Fatty Acid Alpha-oxidation II Pathway Diagram
 Fatty Acid Alpha-oxidation II Pathway antibodies  Fatty Acid Alpha-oxidation II Pathway Diagram

Diseases associated with PHYH cdna clone

 Disease Name  Pubmed Publications
 Refsum Disease Antibodies  >39 publications with PHYH and Refsum Disease
 Fatty Liver Antibodies  >7 publications with PHYH and Fatty Liver
 Liver Diseases Antibodies  >4 publications with PHYH and Liver Diseases
 Weight Loss Antibodies  >3 publications with PHYH and Weight Loss
 Kidney Diseases Antibodies  >2 publications with PHYH and Kidney Diseases
 Atrophy Antibodies  >1 publications with PHYH and Atrophy
 Mental Disorders Antibodies  >1 publications with PHYH and Mental Disorders
 Lipidoses Antibodies  >1 publications with PHYH and Lipidoses
 Arrhythmias, Cardiac Antibodies  >1 publications with PHYH and Arrhythmias, Cardiac
 Fever Antibodies  >1 publications with PHYH and Fever

Organs/Tissues associated with PHYH cdna clone

 Organ/Tissue Name  Pubmed Publications
 Blood Antibodies  >12 publications with PHYH and Blood
 Liver Antibodies  >12 publications with PHYH and Liver
 Brain Antibodies  >8 publications with PHYH and Brain
 Nerve Antibodies  >5 publications with PHYH and Nerve
 Adipose Tissue Antibodies  >3 publications with PHYH and Adipose Tissue
 Skin Antibodies  >3 publications with PHYH and Skin
 Connective Tissue Antibodies  >3 publications with PHYH and Connective Tissue
 Heart Antibodies  >2 publications with PHYH and Heart
 Muscle Antibodies  >1 publications with PHYH and Muscle
 Prostate Antibodies  >1 publications with PHYH and Prostate
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