LIM/homeobox protein Lhx3

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The LHX3 gene at 9q34.3 codes for the 397 amino acid LIM/homeobox protein Lhx3, a transcriptional activator. It binds to and activates the promoter of the alpha-1-acid glycoprotein 1 gene (ORM1), and synergistically enhances transcription from the prolactin promoter in cooperation with pituitary-specific positive transcription factor 1. Functional gene transcript is required for the establishment of the specialized cells of the pituitary gland and other parts of the nervous system. It is involved in the development of interneurons and motor neurons.

Combined pituitary hormone deficiency 3 (CPHD3, OMIM:221750) is caused by mutations of LHX3. Its phenotype is a complete deficit in all anterior pituitary hormones except adrenocorticotropic hormone and a rigid cervical spine leading to limited head rotation.

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