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Gene Review

LHX9  -  LIM homeobox 9

Homo sapiens

Synonyms: LIM homeobox protein 9, LIM/homeobox protein Lhx9
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Disease relevance of LHX9

  • We have investigated the possibility that mutations in the gene LHX9, whose murine ortholog causes isolated gonadal agenesis when inactivated, might be responsible for gonadal dysgenesis and agenesis in humans [1].

High impact information on LHX9


Biological context of LHX9

  • We did not detect mutations in the open reading frame of LHX9 in the patients studied [1].
  • We isolated a human LHX9 complementary DNA (cDNA), mapped the gene to the long arm of human chromosome 1, and determined its genomic structure [1].
  • The expression pattern and structural characteristics of Lhx9 suggest that it encodes a transcription factor that might be involved in the control of cell differentiation of several neural cell types [4].

Anatomical context of LHX9

  • Although Lhx9 expression was sustained in diencephalon and mesencephalon from embryonic day 10.5 (E10.5) to postnatal stages, it was transient in the future cerebral cortex, where it was turned off between E14.5 and E16 [4].

Other interactions of LHX9


Analytical, diagnostic and therapeutic context of LHX9

  • A novel LIM-homeodomain gene, Lhx9, was isolated by degenerate RT-PCR followed by mouse embryonic library screening [4].


  1. Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis. Ottolenghi, C., Moreira-Filho, C., Mendonça, B.B., Barbieri, M., Fellous, M., Berkovitz, G.D., McElreavey, K. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  2. The LIM homeobox gene Lhx9 is essential for mouse gonad formation. Birk, O.S., Casiano, D.E., Wassif, C.A., Cogliati, T., Zhao, L., Zhao, Y., Grinberg, A., Huang, S., Kreidberg, J.A., Parker, K.L., Porter, F.D., Westphal, H. Nature (2000) [Pubmed]
  3. The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1. Wilhelm, D., Englert, C. Genes Dev. (2002) [Pubmed]
  4. Lhx9: a novel LIM-homeodomain gene expressed in the developing forebrain. Rétaux, S., Rogard, M., Bach, I., Failli, V., Besson, M.J. J. Neurosci. (1999) [Pubmed]
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