Structural highlights
Disease
[LHX4_HUMAN] Hypothyroidism due to deficient transcription factors involved in pituitary development or function;Pituitary stalk interruption syndrome;Short stature - pituitary and cerebellar defects - small sella turcica. The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving LHX4 may be a cause of acute lymphoblastic leukemia. Translocation t(1;14)(q25;q32) with IGHG1.[1]
Function
[LHX4_HUMAN] May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung.
References
- ↑ Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet. 2001 Nov;69(5):961-8. Epub 2001 Sep 20. PMID:11567216
