LHX3
Description
The LHX3 (LIM homeobox 3) is a protein-coding gene located on chromosome 9.
LHX3 is a protein encoded by the LHX3 gene in humans. It belongs to a large family of proteins containing the LIM domain, a unique zinc-binding domain. LHX3 acts as a transcription factor, playing a crucial role in pituitary gland development and motor neuron specification. Mutations in LHX3 are associated with a syndrome characterized by combined pituitary hormone deficiency and a stiff cervical spine. LHX3 interacts with LDB1, a protein that contributes to its function.
LHX3 is a transcription factor that binds to the DNA sequence 5'-AATTAATTA-3' in the regulatory regions of target genes, including the glycoprotein hormones alpha chain (CGA) and the visual system homeobox (CHX10), to positively regulate their expression. LDB2 can co-activate LHX3's transcription activity. LHX3 can synergistically enhance transcription from the prolactin promoter in cooperation with POU1F1/Pit-1. LHX3 is essential for the development of specialized cells in the pituitary gland and the nervous system. LHX3 is involved in the development of interneurons and motor neurons in collaboration with LDB1 and ISL1.
LHX3 is also known as CPHD3, LIM3, M2-LHX3.
Associated Diseases
- Deafness, sensorineural, with pituitary dwarfism
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
