FA2H explained

Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.[1]



Clinical significance

Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia as well as fatty acid hydroxylase-associated neurodegeneration.[2]

FA2H has been shown to modulate cell differentiation in vitro. FA2H is may be a Δ9-THC-regulated gene, as Δ9-THC induces differentiation signal(s) in poorly differentiated MDA-MB-231 cells.[3]

Further reading

Notes and References

  1. Web site: Entrez Gene: Fatty acid 2-hydroxylase. 2011-12-30 .
  2. Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA . Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration . European Journal of Human Genetics . 20 . 4 . 476–9 . April 2012 . 22146942 . 3306865 . 10.1038/ejhg.2011.222 .
  3. Takeda S, Harada M, Su S, Okajima S, Miyoshi H, Yoshida K, Nishimura H, Okamoto Y, Amamoto T, Watanabe K, Omiecinski CJ, Aramaki H . Induction of the fatty acid 2-hydroxylase (FA2H) gene by Δ(9)-tetrahydrocannabinol in human breast cancer cells . The Journal of Toxicological Sciences . 38 . 2 . 305–8 . 2013 . 23535410 . 4018719 .