LIM/homeobox protein Lhx4 is a protein that in humans is encoded by the LHX4gene.[1][2][3]
This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in control of differentiation and development of the pituitary gland. Mutations in this gene are associated with syndromic short stature and pituitary and hindbrain defects. An alternative splice variant has been described but its biological nature has not been determined.[3]
References
↑Liu Y, Fan M, Yu S, Zhou Y, Wang J, Yuan J, Qiang B (Feb 2002). "cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4". Brain Res. 928 (1–2): 147–155. doi:10.1016/S0006-8993(01)03243-7. PMID11844481.
Howard PW, Maurer RA (2000). "Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors". J. Biol. Chem. 275 (18): 13336–13342. doi:10.1074/jbc.275.18.13336. PMID10788441.
Kawamata N, Sakajiri S, Sugimoto KJ, et al. (2002). "A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4". Oncogene. 21 (32): 4983–4991. doi:10.1038/sj.onc.1205628. PMID12118377.
Dattani MT (2004). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". J. Pediatr. Endocrinol. Metab. 16 (9): 1207–9. doi:10.1515/jpem.2003.16.9.1207. PMID14714741.
Sobrier ML, Attié-Bitach T, Netchine I, et al. (2006). "Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development". Gene Expr. Patterns. 5 (2): 279–284. doi:10.1016/j.modgep.2004.07.003. PMID15567726.
Machinis K, Amselem S (2005). "Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects". J. Clin. Endocrinol. Metab. 90 (9): 5456–5462. doi:10.1210/jc.2004-2332. PMID15998782.