Bioss Inc.'s LMX1b/NPS1 Polyclonal Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: EIA, Immunoassay, ELISA, Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, Immunohistochemistry - frozen, and Western Blot. The LMX1b/NPS1 Polyclonal Antibody was generated using LMX1B as the antigen and it reacts with Mouse, and Rat.
Description
Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies and, frequently, renal disease. NPS is caused by putative loss-of-function mutations in the transcription factor LMX1B. LMX1B belongs to the LIM-homeodomain family, members of which are known to be important for pattern formation during development. Twenty-two novel mutations may occur in the gene encoding LMX1B and the type and distribution of the mutations support the hypothesis that NPS is the result of haploinsufficiency for LMX1B. LMX1B is also necessary for normal development of the eye and in regulating dopaminergic neurogenesis and may be involved in developmental glaucoma and the aetiology of idiopathic Parkinson?s disease. Specifically, LMX1B along with LIM1 control the initial trajectory of motor axons in the developing mammalian limb. In addition, LMX1B directly regulates the coordinated expression of alpha 3(IV) and alpha 4(IV) collagen required for normal glomerular basement membrane (GBM) morphogenesis, and the dysregulation of LMX1B in GBM contributes to the renal pathology and nephrosis in NPS