人 TBC1D24 (NM_001199107) cDNA克隆

Accession: NM_001199107
基因名称: TBC1D24
基因别名: FIME; TLDC6; EIEE16
基因描述: Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1680 (查看编码区序列)
翻译后氨基酸长度: 559 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
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G124358 人 TBC1D24 (NM_001199107) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]