人 IYD (NM_203395) cDNA克隆

Accession: NM_203395
基因名称: IYD
基因别名: TDH4; DEHAL1; C6orf71; dJ422F24.1
基因描述: Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 2, mRNA.
种属: Human
CDS区长度: 870 (查看编码区序列)
翻译后氨基酸长度: 289 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
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G118885 人 IYD (NM_203395) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]