LMX1B Antibody – Rabbit

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]

LMX1B: Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels. Defects in LMX1B are the cause of nail-patella syndrome (NPS); also known as onychoosteodysplasia. NPS is a disease that cause abnormal skeletal patterning and renal dysplasia. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation; Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 9q33.3

Cellular Component: nucleus

Molecular Function: protein binding; zinc ion binding; sequence-specific DNA binding; transcription factor activity

Biological Process: neuron differentiation; organ growth; cell proliferation; collagen fibril organization; transcription, DNA-dependent; regulation of transcription, DNA-dependent; dorsal/ventral pattern formation; in utero embryonic development; multicellular organismal development; midbrain development; neuron migration; cerebellum morphogenesis; positive regulation of transcription from RNA polymerase II promoter; limb morphogenesis; central nervous system neuron development

Disease: Nail-patella Syndrome