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- accession：NM_147127
- 基因别名：LBN
- 基因描述：Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.
- 载体：现货载体
- CDS区长度：3927
- 翻译后氨基酸长度：1308
- TranscriptVariant：This variant (1) represents the shorter transcript but encodes the longer isoform (1).
- 基因简介：This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
- 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
