“FA2H”的意思、由来-开放百科全书

Function

This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups.^[1]

Clinical significance

Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia^[1] 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]

References

1. ^¹²{{cite web | title = Entrez Gene: Fatty acid 2-hydroxylase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=79152| access-date = 2011-12-30 }}
2. ^{{cite journal | vauthors = 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 | title = Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration | journal = European Journal of Human Genetics | volume = 20 | issue = 4 | pages = 476–9 | date = April 2012 | pmid = 22146942 | pmc = 3306865 | doi = 10.1038/ejhg.2011.222 }}
3. ^{{cite journal | vauthors = Takeda S, Harada M, Su S, Okajima S, Miyoshi H, Yoshida K, Nishimura H, Okamoto Y, Amamoto T, Watanabe K, Omiecinski CJ, Aramaki H | title = Induction of the fatty acid 2-hydroxylase (FA2H) gene by Δ(9)-tetrahydrocannabinol in human breast cancer cells | journal = The Journal of Toxicological Sciences | volume = 38 | issue = 2 | pages = 305–8 | date = 2013 | pmid = 23535410 | pmc = 4018719 }}

Further reading

{{cite journal | vauthors = Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H | title = The human FA2H gene encodes a fatty acid 2-hydroxylase | journal = The Journal of Biological Chemistry | volume = 279 | issue = 47 | pages = 48562–8 | date = November 2004 | pmid = 15337768 | doi = 10.1074/jbc.M406649200 }}

{{cite journal | vauthors = Uchida Y, Hama H, Alderson NL, Douangpanya S, Wang Y, Crumrine DA, Elias PM, Holleran WM | title = Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation | journal = The Journal of Biological Chemistry | volume = 282 | issue = 18 | pages = 13211–9 | date = May 2007 | pmid = 17355976 | doi = 10.1074/jbc.M611562200 }}

{{cite journal | vauthors = Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH | title = A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23 | journal = Neurology | volume = 71 | issue = 4 | pages = 248–52 | date = July 2008 | pmid = 18463364 | doi = 10.1212/01.wnl.0000319610.29522.8a }}

{{cite journal | vauthors = Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O | title = Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia | journal = American Journal of Human Genetics | volume = 83 | issue = 5 | pages = 643–8 | date = November 2008 | pmid = 19068277 | pmc = 2668027 | doi = 10.1016/j.ajhg.2008.10.010 }}

{{cite journal | vauthors = Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK | title = Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging | journal = PLoS Genetics | volume = 5 | issue = 10 | pages = e1000685 | date = October 2009 | pmid = 19834535 | pmc = 2752811 | doi = 10.1371/journal.pgen.1000685 | editor1-last = Gibson | editor1-first = Greg }}

{{cite journal | vauthors = Dastani Z, Pajukanta P, Marcil M, Rudzicz N, Ruel I, Bailey SD, Lee JC, Lemire M, Faith J, Platko J, Rioux J, Hudson TJ, Gaudet D, Engert JC, Genest J | title = Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects | journal = European Journal of Human Genetics | volume = 18 | issue = 3 | pages = 342–7 | date = March 2010 | pmid = 19844255 | pmc = 2824775 | doi = 10.1038/ejhg.2009.157 }}

{{cite journal | vauthors = 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, Houlden H, Crosby AH | title = Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) | journal = Human Mutation | volume = 31 | issue = 4 | pages = E1251-60 | date = April 2010 | pmid = 20104589 | doi = 10.1002/humu.21205 }}

{{cite journal | vauthors = Dan P, Edvardson S, Bielawski J, Hama H, Saada A | title = 2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase | journal = Lipids in Health and Disease | volume = 10 | pages = 84 | date = May 2011 | pmid = 21599921 | pmc = 3107802 | doi = 10.1186/1476-511X-10-84 }}