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HGD, cDNA Clone

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產(chǎn)品名稱: HGD, cDNA Clone
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HGD, cDNA Clone


HGD, cDNA Clone  的詳細(xì)介紹
Product Name

HGD, cDNA Clone

Popular Item
Full Product Name

HGD cDNA Clone

Product Gene Name

HGD cdna clone

[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
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Sequence
atggctgagt taaagtacat ttctggattt gggaatgagt gttcttcaga ggatcctcgc tgcccaggtt ccctgccaga aggacagaat aatcctcagg tctgccccta caatctctat gctgagcagc tctcaggatc ggctttcact tgtccacgga gcaccaataa gagaagctgg ctgtatagga ttctaccttc agtttctcac aagccctttg aatccattga cgaaggccat gtcactcaca actgggatga agttgatcct gatcctaacc agcttagatg gaaaccattt gagattccaa aagcatctca gaagaaagta gactttgtga gtggcctgca taccttgtgt ggagctggag acataaagtc taacaatggg cttgctatcc acattttcct ctgcaatacc tccatggaga acagatgctt ttacaattca gatggggact tcttgattgt tccgcagaaa gggaaccttc tcatttacac cgagtttggc aagatgcttg tacagcccaa tgagatctgc gtcattcaga gaggaatgcg gttcagcata gatgtctttg aggagaccag gggctacatc ttggaggtct atggtgtcca ctttgagtta cctgaccttg gaccaattgg ggccaatggc ttggccaatc ctcgtgattt cttgataccc attgcctggt atgaggatcg ccaagtacca ggtggttaca cggtcattaa taaataccag ggcaagctgt ttgctgccaa acaggatgtc tccccgttca atgttgtggc ctggcacggg aattatacac cctacaagta caacctgaag aatttcatgg ttatcaactc agtggccttt gaccatgcag acccatccat tttcacagta ttgactgcta agtctgtccg ccctggagtg gccattgctg attttgtcat cttcccacct cgatgggggg ttgctgataa gaccttcagg cctccttatt accataggaa ctgcatgagt gagttcatgg gactcatccg aggtcactat gaggcaaagc aaggtgggtt cctgccaggg ggagggagtc tacacagcac aatgaccccc catggacctg atgctgactg ctttgagaag gccagcaagg tcaagctggc acctgagagg attgccgatg gcaccatggc atttatgttt gaatcatctt taagtctggc ggtcacaaag tggggactca aggcctccag gtgtttggat gagaactacc acaagtgctg ggagccactc aagagccact tcactcccaa ctccaggaac ccagcagaac ctaattga
OMIM
203500
Vector
pENTR223.1
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of HGD 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.
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NCBI/Uniprot data below describe general gene information for HGD. It may not necessarily be applicable to this product.
NCBI GI #
47939114
NCBI GeneID
3081
NCBI Accession #
BC071757 [Other Products]
UniProt Secondary Accession #
A8K417; B2R8Z0[Other Products]
UniProt Related Accession #
Q93099[Other Products]
Molecular Weight
49,964 Da
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NCBI Official Full Name
Homo sapiens homogentisate 1,2-dioxygenase (homogentisate oxidase), mRNA
NCBI Official Synonym Full Names
homogentisate 1,2-dioxygenase
NCBI Official Symbol
HGD??[Similar Products]
NCBI Official Synonym Symbols
AKU; HGO
??[Similar Products]
NCBI Protein Information
homogentisate 1,2-dioxygenase
UniProt Protein Name
Homogentisate 1,2-dioxygenase
UniProt Synonym Protein Names
Homogentisate oxygenase; Homogentisic acid oxidase; Homogentisicase
Protein Family
2-(hydroxymethyl)glutarate dehydrogenase
UniProt Gene Name
HGD??[Similar Products]
UniProt Synonym Gene Names
HGO??[Similar Products]
UniProt Entry Name
HGD_HUMAN
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NCBI Summary for HGD
This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
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UniProt Comments for HGD
HGD: Defects in HGD are the cause of alkaptonuria (AKU). AKU is an autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations of AKU are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. Belongs to the homogentisate dioxygenase family.

Protein type: Oxidoreductase; EC 1.13.11.5; Amino Acid Metabolism - tyrosine

Chromosomal Location of Human Ortholog: 3q13.33

Cellular Component: cytosol

Molecular Function: homogentisate 1,2-dioxygenase activity; protein binding

Biological Process: L-phenylalanine catabolic process

Disease: Alkaptonuria
Research Articles on HGD
1. A, shows a significant founder effect and high prevalence in a nomadic Indian population.">A novel alkaptonuria mutation, c.87 + 1G > A, shows a significant founder effect and high prevalence in a nomadic Indian population.
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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.
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