人 SHOX (NM_006883) cDNA克隆

Accession: NM_006883
基因名称: SHOX
基因别名: SS; GCFX; PHOG; SHOXY
基因描述: Homo sapiens short stature homeobox (SHOX), transcript variant 2, mRNA.
种属: Human
CDS区长度: 678 (查看编码区序列)
翻译后氨基酸长度: 225 (查看氨基酸序列)
Transcript Variant: This variant (2) contains an alternate 3' terminal exon compared to transcript variant 1, and encodes a shorter isoform (SHOXb) with a different C-terminus compared to isoform SHOXa.
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G158136 人 SHOX (NM_006883) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]