LMX1B, LIM homeobox transcription factor 1-beta, LIM/homeobox protein 1.2, LMX-1.2, LIM/homeobox protein LMX1B
LIM homeobox transcription factor 1 beta(LMX1B) Homo sapiens 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],disease:Defects in LMX1B are the cause of nail-patella syndrome (NPS) [MIM:161200], also knowan as Onychoosteodysplasia. NPS is a disease that cause abnormal skeletal patterning and renal dysplasia.,function:Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.,similarity:Contains 1 homeobox DNA-binding domain.,similarity:Contains 1 LIM zinc-binding domain.,similarity:Contains 2 LIM zinc-binding domains.,tissue specificity:Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.,
