Recombinant Human LIM homeobox transcription factor 1-beta (LMX1B)

Uniprot Id

O60663

Target Species

Human

Target Name

LMX1B

Target Full Name

LIM homeobox transcription factor 1-beta

Target Function

Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.

Target Involvement

Nail-patella syndrome (NPS)

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.

Target Synonyms

LIM homeo box transcription factor 1 beta; LIM homeobox transcription factor 1 beta; LIM homeobox transcription factor 1-beta; LIM-homeobox protein 1.2; LIM/homeobox protein 1.2; LIM/homeobox protein LMX1B; LMX 1.2; LMX-1.2; LMX1.2; LMX1B; LMX1B_HUMAN; MGC138325; MGC142051; NPS 1; NPS1

Target Background

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.