LHX3

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 have been associated with a syndrome of combined pituitary hormone deficiency and rigid cervical spine. Two transcripts variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq]

Full Name

LHX3

Function

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 POU1F1/Pit-1 (By similarity).
Required for the establishment of the specialized cells of the pituitary gland and the nervous system. Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1.

Biological Process

Animal organ morphogenesisManual Assertion Based On ExperimentTAS:ProtInc
Inner ear developmentManual Assertion Based On ExperimentIEP:UniProtKB
Lung developmentIEA:Ensembl
Medial motor column neuron differentiationIEA:Ensembl
Motor neuron axon guidanceIEA:Ensembl
Negative regulation of apoptotic processIEA:Ensembl
Neuron differentiationManual Assertion Based On ExperimentIBA:GO_Central
Pituitary gland developmentIEA:Ensembl
Placenta developmentIEA:Ensembl
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:NTNU_SB
Positive regulation of transcription, DNA-templatedISS:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Spinal cord association neuron differentiationIEA:Ensembl
Spinal cord motor neuron cell fate specificationIEA:Ensembl
Ventral spinal cord interneuron specificationIEA:Ensembl

Cellular Location

Nucleus

Involvement in disease

Pituitary hormone deficiency, combined, 3 (CPHD3):
Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD3 is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary hormone and a rigid cervical spine leading to limited head rotation.