LHX3
Appearance
LIM/homeobox protein Lhx3 is a protein that in humans is encoded by the LHX3 gene.[5][6][7]
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.[7]
Clinical significance
Mutations in this gene have been associated with a syndrome of combined pituitary hormone deficiency and rigid cervical spine.[7]
Interactions
LHX3 has been shown to interact with Ldb1.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000107187 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026934 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Sloop KW, Meier BC, Bridwell JL, Parker GE, Schiller AM, Rhodes SJ (Jan 2000). "Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties". Mol Endocrinol. 13 (12): 2212–25. doi:10.1210/me.13.12.2212. PMID 10598593.
- ^ Sloop KW, Showalter AD, Von Kap-Herr C, Pettenati MJ, Rhodes SJ (May 2000). "Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9". Gene. 245 (2): 237–43. doi:10.1016/S0378-1119(00)00025-1. PMID 10717474.
- ^ a b c "Entrez Gene: LHX3 LIM homeobox 3".
- ^ Jurata LW, Pfaff SL, Gill GN (February 1998). "The nuclear LIM domain interactor NLI mediates homo- and heterodimerization of LIM domain transcription factors". J. Biol. Chem. 273 (6): 3152–7. doi:10.1074/jbc.273.6.3152. PMID 9452425.
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Further reading
External links
- LHX3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.