LHX3

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.

Clinical significance

Mutations in this gene have been associated with a syndrome of combined pituitary hormone deficiency and rigid cervical spine.

Interactions

LHX3 has been shown to interact with Ldb1.