人 TSC2 (NM_001114382) cDNA克隆

Accession: NM_001114382
基因名称: TSC2
基因别名: LAM; TSC4
基因描述: Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 5, mRNA.
种属: Human
CDS区长度: 5355 (查看编码区序列)
翻译后氨基酸长度: 1784 (查看氨基酸序列)
Transcript Variant: This variant (5) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 5), compared to isoform 1.
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G162889 人 TSC2 (NM_001114382) cDNA克隆 pDONR223 2ug质粒 点击询价

Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]