人 MEGF10 (NM_032446) cDNA克隆

Accession: NM_032446
基因名称: MEGF10
基因别名: EMARDD
基因描述: Homo sapiens multiple EGF-like-domains 10 (MEGF10), transcript variant 1, mRNA.
种属: Human
CDS区长度: 3423 (查看编码区序列)
翻译后氨基酸长度: 1140 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
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G166560 人 MEGF10 (NM_032446) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]