人 HIBCH (NM_198047) cDNA克隆

基本信息

Accession: NM_198047
基因名称: HIBCH
基因别名: HIBYLCOAH
基因描述: Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1017 (查看编码区序列)
翻译后氨基酸长度: 338 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus, compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G109898 人 HIBCH (NM_198047) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 HIBCH (NM_014362) cDNA克隆 transcript variant 1
人 HIBCH (NM_198047) cDNA克隆 transcript variant 2

基因简介

This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

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