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]
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 Pit-1.
Subcellular Location:
Nucleus.
DISEASE:
Defects in LHX3 are the cause of pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]; 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.
Similarity:
Contains 1 homeobox DNA-binding domain.
Contains 2 LIM zinc-binding domains.
SWISS:
Q9UBR4
Gene ID:
8022
Database links:
Entrez Gene: 8022 Human
Entrez Gene: 16871 Mouse
Entrez Gene: 170671 Rat
Omim: 600577 Human
SwissProt: Q9UBR4 Human
SwissProt: P50481 Mouse
Unigene: 148427 Human
Unigene: 386765 Mouse
Unigene: 198623 Rat
|
|
