人 TBC1D7 (NM_001258457) cDNA克隆

Accession: NM_001258457
基因名称: TBC1D7
基因别名: TBC7; MGCPH; PIG51
基因描述: Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 5, mRNA.
种属: Human
CDS区长度: 744 (查看编码区序列)
翻译后氨基酸长度: 247 (查看氨基酸序列)
Transcript Variant: This variant (5) differs in the 5' UTR, and lacks an in-frame coding exon in the mid region compared to variant 1, which results in a shorter isoform (c) missing an internal protein segment compared to isoform a.
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G109173 人 TBC1D7 (NM_001258457) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]