Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.
| RefSeq Version | NM_024306.4, 291621627 |
| Length | 2450 bp |
| Structure | linear |
| Update Date | 24-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. |
| Product | fatty acid 2-hydroxylase |
| Comment | Summary: 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. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia. COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_077282.3 |
| CDS | 77..1195 | Exon (1) | 1..346 | Exon (2) | 1..346 | Exon (3) | 347..439 | Exon (4) | 440..582 | Exon (5) | 583..689 | Exon (6) | 690..862 | Exon (7) | 863..1115 | Exon (8) | 1116..2430 |
| Translation | MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISA
DLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWD
KDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLV
LYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHM
KPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTV
FAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFH
TLTPEKPHLKTQ
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Position | Chain | Variation | Link |
| complement(82) | - | g, a | dbSNP:113471134 |
| complement(102) | - | g, c | dbSNP:12930201 |
| complement(105) | - | g, a | dbSNP:12930196 |
| 179 | + | g, t | dbSNP:121918217 |
| complement(305) | - | g, a | dbSNP:929881 |
| 365 | + | c, g | dbSNP:35874850 |
| complement(613) | - | t, c | dbSNP:75711361 |
| complement(955) | - | g, a | dbSNP:2301865 |
| 964 | + | a, g | dbSNP:11554621 |
| 1009 | + | c, t | dbSNP:11554620 |
| complement(1229) | - | t, c | dbSNP:75856125 |
| complement(1438) | - | t, c | dbSNP:115024147 |
| complement(1476) | - | t, g | dbSNP:76151062 |
| complement(1478) | - | g, c | dbSNP:80215625 |
| complement(1502) | - | t, c | dbSNP:115461339 |
| complement(1599) | - | t, a | dbSNP:73614641 |
| complement(1832) | - | g, c | dbSNP:56033857 |
| complement(1998) | - | g, a | dbSNP:71392612 |
| complement(2153) | - | g, a | dbSNP:115575599 |
| 2259 | + | c, g | dbSNP:1046371 |
| complement(2324) | - | t, c | dbSNP:7184172 |
| complement(2326) | - | t, g | dbSNP:7189731 |
| Gene Symbol | FA2H |
| Gene Synonym | FAAH; FAH1; FAXDC1; FLJ25287; SCS7; SPG35 |
| Chromosome | 16 |
| Locus Map | 16q23 |
| All Transcripts | NM_024306 |
| Title | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . |
| Author | Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. |
| Journal | Mol. Med. 16 (7-8), 247-253 (2010) |
| Title | Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) . |
| Author | Dick,K.J., Eckhardt,M., Paisan-Ruiz,C., Alshehhi,A.A., Proukakis,C., Sibtain,N.A., Maier,H., Sharifi,R., Patton,M.A., Bashir,W., Koul,R., Raeburn,S., Gieselmann,V., Houlden,H. and Crosby,A.H. |
| Journal | Hum. Mutat. 31 (4), E1251-E1260 (2010) |
| Title | Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging . |
| Author | Wheeler,H.E., Metter,E.J., Tanaka,T., Absher,D., Higgins,J., Zahn,J.M., Wilhelmy,J., Davis,R.W., Singleton,A., Myers,R.M., Ferrucci,L. and Kim,S.K. |
| Journal | PLoS Genet. 5 (10), E1000685 (2009) |
| Title | Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia . |
| Author | Edvardson,S., Hama,H., Shaag,A., Gomori,J.M., Berger,I., Soffer,D., Korman,S.H., Taustein,I., Saada,A. and Elpeleg,O. |
| Journal | Am. J. Hum. Genet. 83 (5), 643-648 (2008) |
| Title | A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23 . |
| Author | Dick,K.J., Al-Mjeni,R., Baskir,W., Koul,R., Simpson,M.A., Patton,M.A., Raeburn,S. and Crosby,A.H. |
| Journal | Neurology 71 (4), 248-252 (2008) |
| Title | Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation . |
| Author | Uchida,Y., Hama,H., Alderson,N.L., Douangpanya,S., Wang,Y., Crumrine,D.A., Elias,P.M. and Holleran,W.M. |
| Journal | J. Biol. Chem. 282 (18), 13211-13219 (2007) |
| Title | The human FA2H gene encodes a fatty acid 2-hydroxylase . |
| Author | Alderson,N.L., Rembiesa,B.M., Walla,M.D., Bielawska,A., Bielawski,J. and Hama,H. |
| Journal | J. Biol. Chem. 279 (47), 48562-48568 (2004) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |