desert hedgehog signaling molecule
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The DHH gene provides instructions for making a member of the hedgehog protein family. Hedgehog proteins are important for early development in many parts of the body. The protein produced from the DHH gene is believed to be involved in male-typical sex development and in the formation of the perineurium, the protective membrane around each bundle of fibers within a nerve.
Normal function
The DHH gene provides instructions for making a member of the hedgehog protein family. Hedgehog proteins are important for early development in many parts of the body. The protein produced from the DHH gene is believed to be involved in male-typical sex development and in the formation of the perineurium, the protective membrane around each bundle of fibers within a nerve.
Conditions referring to this gene or chromosome
Altri nomi
desert hedgehog homolog (Drosophila)
DHH_HUMAN
HHG-3
MGC35145
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Ulteriori letture e riferimenti
- desert hedgehog signaling molecule; MedlinePlus, National Library of Medicine.
- Canto P, Soderlund D, Reyes E, Mendez JP. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. J Clin Endocrinol Metab. 2004 Sep;89(9):4480-3. doi: 10.1210/jc.2004-0863.
- Canto P, Vilchis F, Soderlund D, Reyes E, Mendez JP. A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. Mol Hum Reprod. 2005 Nov;11(11):833-6. doi: 10.1093/molehr/gah216. Epub 2006 Jan 3.
- Das DK, Sanghavi D, Gawde H, Idicula-Thomas S, Vasudevan L. Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods. Eur J Med Genet. 2011 Nov-Dec;54(6):e529-34. doi: 10.1016/j.ejmg.2011.04.010. Epub 2011 Jul 23.
- King TF, Conway GS. Swyer syndrome. Curr Opin Endocrinol Diabetes Obes. 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113.
- Mohnach L, Fechner PY, Keegan CE. Nonsyndromic Disorders of Testicular Development Overview. 2008 May 21 [updated 2022 Aug 18]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1547/
- Sugie K, Futamura N, Suzumura A, Tate G, Umehara F. Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity. Ann Neurol. 2002 Mar;51(3):385-8. doi: 10.1002/ana.10150.
- Umehara F, Tate G, Itoh K, Osame M. Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation. Cell Mol Biol (Noisy-le-grand). 2002 Mar;48(2):187-9.
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