人 AMMECR1 (NM_001025580) cDNA克隆

基本信息

Accession: NM_001025580
基因名称: AMMECR1
基因别名: AMMERC1
基因描述: Homo sapiens Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 891 (查看编码区序列)
翻译后氨基酸长度: 296 (查看氨基酸序列)
Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G115982 人 AMMECR1 (NM_001025580) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 AMMECR1 (NM_015365) cDNA克隆 transcript variant 1
人 AMMECR1 (NM_001025580) cDNA克隆 transcript variant 2
人 AMMECR1 (NM_001171689) cDNA克隆 transcript variant 3

基因简介

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

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