LHX4

LHX4

LHX4

Protein-coding gene in the species Homo sapiens


LIM/homeobox protein Lhx4 is a protein that in humans is encoded by the LHX4 gene.[5][6][7]

Quick Facts Available structures, PDB ...

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.[7]


References

  1. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  2. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. 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. PMID 11844481. S2CID 44298466.
  4. Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S (Oct 2001). "Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4". Am J Hum Genet. 69 (5): 961–968. doi:10.1086/323764. PMC 1274372. PMID 11567216.

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