人 LRSAM1 (NM_001190723) cDNA克隆

Accession: NM_001190723
基因名称: LRSAM1
基因别名: TAL; CMT2P; RIFLE
基因描述: Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 4, mRNA.
种属: Human
CDS区长度: 2091 (查看编码区序列)
翻译后氨基酸长度: 696 (查看氨基酸序列)
Transcript Variant: This variant (4) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
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G113822 人 LRSAM1 (NM_001190723) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]