人 AMMECR1 (NM_015365) cDNA克隆

Accession: NM_015365
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 1, mRNA.
种属: Human
CDS区长度: 1002 (查看编码区序列)
翻译后氨基酸长度: 333 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes the longest isoform (1).
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G115984 人 AMMECR1 (NM_015365) cDNA克隆 pDONR223 2ug质粒 点击询价

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]