- accession:NM_001171689
- 基因别名:AMMECR1
- 基因描述:Homo sapiens Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1), transcript variant 3, mRNA.
- 载体:现货载体
- CDS区长度:633
- 翻译后氨基酸长度:210
- TranscriptVariant:This variant (3) differs at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and a shorter isoform (3) compared to isoform 1.
- 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]
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列