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人 PHYH 基因ORF全长cDNA(克隆载体)

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     PHYH cDNA Clone产品信息
    NCBI注册码:BC029512
    参考序列ORF长度:1017bp
    cDNA基因描述:Full length Clone DNA of Homo sapiens phytanoyl-CoA 2-hydroxylase.
    分子别称:RD, LN1, PAHX, LNAP1, PHYH1, PHYH
    分子种属:Human
    载体:pGEM-T Vector
    质粒:pGEM-PHYH
    限制性酶切位点:
    Tag序列:
    序列信息:Identical with the Gene Bank Ref. ID sequence.
    测序引物:SP6 and T7 or M13-47 and RV-M
    ( We provide with PHYH qPCR primers for gene expression analysis, HP102073 )
    启动子:
    Application:
    抗生素(大肠杆菌):Ampicillin
    抗生素(哺乳动物细胞):
    运输方式:Each tube contains lyophilized plasmid.
    储存方法:The lyophilized plasmid can be stored at room temperature for three months.
    pGEM-T Vector Information

    The pGEM-T is 3kb in length, and contains the amplicin resistance gene, conferring selection of the plasmid in E. coli, and the ori site which is the bacterial origin of replication. The plasmid has multiple cloning sites as shown below. The coding sequence was inserted by TA cloning. Many E. coli strains are suitable for the propagation of this vector including JM109, DH5α and TOP10.

    pGEM-T Simple Usage Suggestion:

    The coding sequence can be easily obtained by digesting the vector with proper restriction enzyme(s). The coding sequence can also be amplified by PCR with M13 primers, or primer pair SP6 and T7.

    Vector Sequence Download
    Product nameProduct name
    研究背景

    PHYH belongs to the family of iron(II)-dependent oxygenases, which typically incorporate one atom of dioxygen into the substrate and one atom into the succinate carboxylate group. PHYH is expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle. It converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Defects in PHYH can cause 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.

    参考资料
  • Mihalik SJ, et al. (1997) Identification of PAHX, a Refsum disease gene. Nat Genet. 17(2): 185-9.
  • McDonough MA, et al. (2005) Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. J Biol Chem. 280(49):41101-10.
  • Jansen GA, et al. (1998) Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. Clin Chim Acta. 271 (2):203-11.
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    货号: HG13368-G
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