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- accession：NM_001242462
- 基因别名：GHR
- 基因描述：Homo sapiens growth hormone receptor (GHR), transcript variant 12, mRNA.
- 载体：现货载体
- CDS区长度：888
- 翻译后氨基酸长度：295
- TranscriptVariant：This variant (12, also known as GHR1-277) lacks a coding exon in the 3' region, compared to variant 1. The resulting isoform (5) has a shorter and distinct C-terminus, compared to isoform 1.
- 基因简介：This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
- 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
