基因名:
LMX1B
产品别名:
FSGS10; LMX1.2; NPS1; LMX1B; LIM homeobox transcription factor 1 beta; LIM homeobox transcription factor 1 beta; LIM homeobox transcription factor 1-beta; LIM/homeobox protein 1.2; LMX-1.2; 指甲髌骨综合征相关蛋白NPS1;
背景信息:
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]