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Li, V. CTSD Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4317 (accessed on 29 September 2026).
Li V. CTSD Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4317. Accessed September 29, 2026.
Li, Vivi. "CTSD Gene" Encyclopedia, https://encyclopedia.pub/entry/4317 (accessed September 29, 2026).
Li, V. (2020, December 23). CTSD Gene. In Encyclopedia. https://encyclopedia.pub/entry/4317
Li, Vivi. "CTSD Gene." Encyclopedia. Web. 23 December, 2020.
CTSD Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/ctsd

Cathepsin D: The CTSD gene provides instructions for making an enzyme called cathepsin D.

genes

References

  1. Benes P, Vetvicka V, Fusek M. Cathepsin D--many functions of one asparticprotease. Crit Rev Oncol Hematol. 2008 Oct;68(1):12-28. doi:10.1016/j.critrevonc.2008.02.008.
  2. Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T. Cellbiology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019.
  3. Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinicalcorrelations of over 360 mutations in eight genes that underlie the neuronalceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624.
  4. Masson O, Bach AS, Derocq D, Prébois C, Laurent-Matha V, Pattingre S,Liaudet-Coopman E. Pathophysiological functions of cathepsin D: Targeting itscatalytic activity versus its protein binding activity? Biochimie. 2010Nov;92(11):1635-43. doi: 10.1016/j.biochi.2010.05.009.
  5. Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W,Saftig P, Gartner J. Cathepsin D deficiency is associated with a humanneurodegenerative disorder. Am J Hum Genet. 2006 Jun;78(6):988-98.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 720
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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