菜单 基因医生

这个基因编码bmp(骨形态发生蛋白)拮抗剂家族的一个成员。和BMP一样,BMP拮抗剂含有胱氨酸结,通常形成同型和异型二聚体。bmp拮抗剂的c an(cerberus和dan)亚家族是该基因所属的一个亚家族,其特征是具有八元环的c-末端胱氨酸结。由该基因编码的分泌糖基化蛋白的拮抗作用可能与其与bmp蛋白直接结合有关。作为bmp的拮抗剂,该基因可能在调节器官发生、体形形成和组织分化中发挥作用。在小鼠中,这种蛋白已经被证明在肢芽生长过程中将声刺猬(shh)信号从极化区传递到顶端外胚层脊。另外,已经发现该基因编码不同亚型的剪接转录变体。[由RefSeq提供,2010年7月]
This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

基因名:GREM1
别名:DRM,HMPS,MPSH,PIG2,CRAC1,CRCS4,DAND2,HMPS1,IHG-2,DUP15q,C15DUPq,GREMLIN,CKTSF1B1
基因ID:26585
Chromosome:
(GRCh37)
15 Start: 33010175 End: 33026870 Strand: 
信号通路: 遗传相关 
GREM1 基因突变与药物