LHX3 Antibody – Mouse Monoclonal

This gene encodes a member a large protein family which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

LHX3: Acts as a transcriptional activator. Binds to and activates the promoter of the alpha-glycoprotein gene, and synergistically enhances transcription from the prolactin promoter in cooperation with Pit-1. Defects in LHX3 are the cause of pituitary hormone deficiency combined type 3 (CPHD3); also known as combined pituitary hormone deficiency with rigid cervical spine or sensorineural deafness with pituitary dwarfism. CPHD is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary hormone and a rigid cervical spine leading to limited head rotation. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 9q34.3

Cellular Component: transcription factor complex; nucleus

Molecular Function: zinc ion binding; sequence-specific DNA binding

Biological Process: transcription from RNA polymerase II promoter; organ morphogenesis; pituitary gland development; positive regulation of transcription, DNA-dependent; spinal cord motor neuron cell fate specification; spinal cord association neuron differentiation; motor axon guidance; positive regulation of transcription from RNA polymerase II promoter; medial motor column neuron differentiation; ventral spinal cord interneuron specification; inner ear development; negative regulation of apoptosis; placenta development; lung development

Disease: Pituitary Hormone Deficiency, Combined, 3