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Pathway Description
Vitamin A Deficiency
Homo sapiens
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2022-12-15
Last Updated: 2023-10-25
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
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Pubmed: 1654334
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Pubmed: 29567832
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Pubmed: 22227495
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Pubmed: 10333503
Du J, Huang DY, Liu GF, Wang GL, Xu XL, Wang B, Zhu L: CDNA cloning of a short isoform of human liver NADP (H) -dependent retinol dehydrogenase/reductase and analysis of its characteristics. Yi Chuan Xue Bao. 2004 Jul;31(7):661-7.
Pubmed: 15473316
Gough WH, VanOoteghem S, Sint T, Kedishvili NY: cDNA cloning and characterization of a new human microsomal NAD+-dependent dehydrogenase that oxidizes all-trans-retinol and 3alpha-hydroxysteroids. J Biol Chem. 1998 Jul 31;273(31):19778-85. doi: 10.1074/jbc.273.31.19778.
Pubmed: 9677409
Jurukovski V, Markova NG, Karaman-Jurukovska N, Randolph RK, Su J, Napoli JL, Simon M: Cloning and characterization of retinol dehydrogenase transcripts expressed in human epidermal keratinocytes. Mol Genet Metab. 1999 May;67(1):62-73. doi: 10.1006/mgme.1999.2840.
Pubmed: 10329026
Cain JM, Zaino R, Shearer D, Bennett RA, Olt G, Weisz J: Expression of a retinol dehydrogenase (hRoDH-4), a member of the retinol/steroid dehydrogenase family implicated in retinoic acid biosynthesis, in normal and neoplastic endometria. Am J Obstet Gynecol. 2002 Apr;186(4):675-83. doi: 10.1067/mob.2002.122127.
Pubmed: 11967490
Rattner A, Smallwood PM, Nathans J: Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol. J Biol Chem. 2000 Apr 14;275(15):11034-43. doi: 10.1074/jbc.275.15.11034.
Pubmed: 10753906
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Pubmed: 9705317
Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 2003 Oct;13(10):2265-70. doi: 10.1101/gr.1293003. Epub 2003 Sep 15.
Pubmed: 12975309
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Pubmed: 11294878
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Pubmed: 11304534
Markova NG, Pinkas-Sarafova A, Karaman-Jurukovska N, Jurukovski V, Simon M: Expression pattern and biochemical characteristics of a major epidermal retinol dehydrogenase. Mol Genet Metab. 2003 Feb;78(2):119-35.
Pubmed: 12618084
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Pubmed: 24916380
Lin B, White JT, Ferguson C, Wang S, Vessella R, Bumgarner R, True LD, Hood L, Nelson PS: Prostate short-chain dehydrogenase reductase 1 (PSDR1): a new member of the short-chain steroid dehydrogenase/reductase family highly expressed in normal and neoplastic prostate epithelium. Cancer Res. 2001 Feb 15;61(4):1611-8.
Pubmed: 11245473
Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Genome Res. 2000 May;10(5):703-13. doi: 10.1101/gr.10.5.703.
Pubmed: 10810093
Senechal A, Humbert G, Surget MO, Bazalgette C, Bazalgette C, Arnaud B, Arndt C, Laurent E, Brabet P, Hamel CP: Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. Am J Ophthalmol. 2006 Oct;142(4):702-4. doi: 10.1016/j.ajo.2006.04.057.
Pubmed: 17011878
Ruiz A, Winston A, Lim YH, Gilbert BA, Rando RR, Bok D: Molecular and biochemical characterization of lecithin retinol acyltransferase. J Biol Chem. 1999 Feb 5;274(6):3834-41. doi: 10.1074/jbc.274.6.3834.
Pubmed: 9920938
Zolfaghari R, Ross AC: Cloning, gene organization and identification of an alternative splicing process in lecithin:retinol acyltransferase cDNA from human liver. Gene. 2004 Oct 27;341:181-8. doi: 10.1016/j.gene.2004.06.043.
Pubmed: 15474300
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