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Li, V. FA2H Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5507 (accessed on 21 September 2026).
Li V. FA2H Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5507. Accessed September 21, 2026.
Li, Vivi. "FA2H Gene" Encyclopedia, https://encyclopedia.pub/entry/5507 (accessed September 21, 2026).
Li, V. (2020, December 25). FA2H Gene. In Encyclopedia. https://encyclopedia.pub/entry/5507
Li, Vivi. "FA2H Gene." Encyclopedia. Web. 25 December, 2020.
FA2H Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/fa2h

Fatty Acid 2-Hydroxylase: The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. 

genes

References

  1. Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H. Thehuman FA2H gene encodes a fatty acid 2-hydroxylase. J Biol Chem. 2004 Nov19;279(47):48562-8.
  2. Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA,Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, HouldenH, Crosby AH. Mutation of FA2H underlies a complicated form of hereditary spasticparaplegia (SPG35). Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205.
  3. Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH,Taustein I, Saada A, Elpeleg O. Mutations in the fatty acid 2-hydroxylase geneare associated with leukodystrophy with spastic paraparesis and dystonia. Am JHum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010.
  4. Gregory A, Hayflick SJ. Genetics of neurodegeneration with brain ironaccumulation. Curr Neurol Neurosci Rep. 2011 Jun;11(3):254-61. doi:10.1007/s11910-011-0181-3. Review.
  5. Gregory A, Venkateswaran S, Hayflick SJ. Fatty Acid Hydroxylase-AssociatedNeurodegeneration. 2011 Jun 28 [updated 2018 Sep 27]. In: Adam MP, Ardinger HH,Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK56080/
  6. Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A,Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J,Houlden H, Hayflick SJ. Defective FA2H leads to a novel form of neurodegenerationwith brain iron accumulation (NBIA). Ann Neurol. 2010 Nov;68(5):611-8. doi:10.1002/ana.22122.
  7. Schneider SA, Bhatia KP. Three faces of the same gene: FA2H linksneurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias. Ann Neurol. 2010 Nov;68(5):575-7. doi: 10.1002/ana.22211.Erratum in: Ann Neurol. 2011 Jul;70(1):187.
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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: 810
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
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