This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
IHC-P
Mouse, Rat
Human, Pig, Sheep, Cow, Dog
1:100-500
IHC-F
Mouse, Rat
Human, Pig, Sheep, Cow, Dog
1:100-500
IF
Mouse, Rat
Human, Pig, Sheep, Cow, Dog
1:100-500
交叉反应
交叉反应: Mouse, Rat (predicted: Human, Pig, Sheep, Cow, Dog)
相关产品
暂无相关产品
靶标
基因名
LMX1B
蛋白名
LIM homeobox transcription factor 1-beta
亚细胞定位
Nucleus.
组织特异性
Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.
疾病
Defects in LMX1B are the cause of nail-patella syndrome (NPS) [MIM:161200]; also known as onychoosteodysplasia. NPS is a disease that cause abnormal skeletal patterning and renal dysplasia.