LHX3
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
LIM/homeobox protein Lhx3 is a protein that in humans is encoded by the LHX3 gene.[5][6][7]
External IDsOMIM: 600577; MGI: 102673; HomoloGene: 7814; GeneCards: LHX3; OMA:LHX3 - orthologs
Function
LHX3 encodes a protein of a large protein family, members of 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. Two transcript variants encoding distinct isoforms have been identified for this gene.[7]
Clinical significance
Mutations in this gene have been associated with a syndrome of combined pituitary hormone deficiency and rigid cervical spine.[7]