人 AHI1 (NM_001134831) cDNA克隆

Accession: NM_001134831
基因名称: AHI1
基因别名: ORF1; AHI-1; JBTS3; dJ71N10.1
基因描述: Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 3591 (查看编码区序列)
翻译后氨基酸长度: 1196 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same isoform (a).
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G155100 人 AHI1 (NM_001134831) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]