LHX4
Description
The LHX4 (LIM homeobox 4) is a protein-coding gene located on chromosome 1.
The LHX4 gene in humans encodes a protein called LIM/homeobox protein Lhx4. This protein is a member of a larger protein family characterized by the presence of a LIM domain, a unique zinc-binding domain rich in cysteine. Lhx4 is thought to function as a transcriptional regulator, playing a role in the regulation of differentiation and development of the pituitary gland. Mutations in the LHX4 gene are linked to syndromic short stature and developmental abnormalities in the pituitary gland and hindbrain. An alternative splice variant of LHX4 has been identified, but its biological significance remains unclear.
LHX4 is also known as CPHD4.
Associated Diseases
- Pituitary hormone deficiency, combined, 4
- Combined pituitary hormone deficiencies, genetic forms
- Pituitary stalk interruption syndrome
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
