Loading Pathway...
Error: Pathway image not found.
Hide
Pathway Description
Vitamin A Deficiency
Homo sapiens
Disease Pathway
Vitamin A deficiency can be caused by many causes. A defect in the BCMO1 gene which codes for beta,beta-carotene 15,15’-monooxygenase is one of them. Beta,beta-carotene 15,15’-monooxygenase catalyzes the chemical reaction where the two substrates are beta-carotene and O2, whereas its product is retinal. A defect in this enzyme results in decrease of levels of retinal and vitamin A in serum; Signs and symptoms include night blindness, poor adaptation to darkness, dry skin and hair.
References
Vitamin A Deficiency References
Attard-Montalto S, Evans N, Sherwood RA: Carotenaemia with low vitamin A levels and low retinol-binding protein. J Inherit Metab Dis. 1992;15(6):929-30. doi: 10.1007/BF01800235.
Pubmed: 1293390
Sharvill DE: Familial hypercarotinaemia and hypovitaminosis A. Proc R Soc Med. 1970 Jun;63(6):605-6.
Pubmed: 5453458
Sommer A: Vitamin a deficiency and clinical disease: an historical overview. J Nutr. 2008 Oct;138(10):1835-9. doi: 10.1093/jn/138.10.1835.
Pubmed: 18806089
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Astrom A, Tavakkol A, Pettersson U, Cromie M, Elder JT, Voorhees JJ: Molecular cloning of two human cellular retinoic acid-binding proteins (CRABP). Retinoic acid-induced expression of CRABP-II but not CRABP-I in adult human skin in vivo and in skin fibroblasts in vitro. J Biol Chem. 1991 Sep 15;266(26):17662-6.
Pubmed: 1654334
Roberts AB, Nichols MD, Newton DL, Sporn MB: In vitro metabolism of retinoic acid in hamster intestine and liver. J Biol Chem. 1979 Jul 25;254(14):6296-302.
Pubmed: 447713
Gutierrez-Mazariegos J, Schubert M, Laudet V: Evolution of retinoic acid receptors and retinoic acid signaling. Subcell Biochem. 2014;70:55-73. doi: 10.1007/978-94-017-9050-5_4.
Pubmed: 24962881
Blaner WS, Li Y, Brun PJ, Yuen JJ, Lee SA, Clugston RD: Vitamin A Absorption, Storage and Mobilization. Subcell Biochem. 2016;81:95-125. doi: 10.1007/978-94-024-0945-1_4.
Pubmed: 27830502
Blomhoff R, Green MH, Green JB, Berg T, Norum KR: Vitamin A metabolism: new perspectives on absorption, transport, and storage. Physiol Rev. 1991 Oct;71(4):951-90. doi: 10.1152/physrev.1991.71.4.951.
Pubmed: 1924551
Belyaeva OV, Wu L, Shmarakov I, Nelson PS, Kedishvili NY: Retinol dehydrogenase 11 is essential for the maintenance of retinol homeostasis in liver and testis in mice. J Biol Chem. 2018 May 4;293(18):6996-7007. doi: 10.1074/jbc.RA117.001646. Epub 2018 Mar 22.
Pubmed: 29567832
Zhang M, Hu P, Napoli JL: Elements in the N-terminal signaling sequence that determine cytosolic topology of short-chain dehydrogenases/reductases. Studies with retinol dehydrogenase type 1 and cis-retinol/androgen dehydrogenase type 1. J Biol Chem. 2004 Dec 3;279(49):51482-9. doi: 10.1074/jbc.M409051200. Epub 2004 Sep 7.
Pubmed: 15355969
Highlighted elements will appear in red.
Highlight Compounds
Highlight Proteins
Enter relative concentration values (without units). Elements will be highlighted in a color gradient where red = lowest concentration and green = highest concentration. For the best results, view the pathway in Black and White.
Visualize Compound Data
Visualize Protein Data
Downloads
Settings