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Tang, P. CBAS2. Encyclopedia. Available online: https://encyclopedia.pub/entry/6041 (accessed on 20 September 2026).
Tang P. CBAS2. Encyclopedia. Available at: https://encyclopedia.pub/entry/6041. Accessed September 20, 2026.
Tang, Peter. "CBAS2" Encyclopedia, https://encyclopedia.pub/entry/6041 (accessed September 20, 2026).
Tang, P. (2021, January 04). CBAS2. In Encyclopedia. https://encyclopedia.pub/entry/6041
Tang, Peter. "CBAS2." Encyclopedia. Web. 04 January, 2021.
CBAS2
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-2

Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.

genetic conditions

References

  1. Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis. 2011Jun;34(3):593-604. doi: 10.1007/s10545-010-9259-3.
  2. Lemonde HA, Custard EJ, Bouquet J, Duran M, Overmars H, Scambler PJ, ClaytonPT. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid5beta-reductase, in hepatitis and liver failure in infancy. Gut. 2003Oct;52(10):1494-9.
  3. Mindnich R, Drury JE, Penning TM. The effect of disease associated pointmutations on 5β-reductase (AKR1D1) enzyme function. Chem Biol Interact. 2011 May 30;191(1-3):250-4. doi: 10.1016/j.cbi.2010.12.020.
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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 : Peter Tang
View Times: 1.1K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 04 Jan 2021
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