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Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_024306 Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 TBD

*Business Day

Related Services

RefSeq Version NM_024306.4, 291621627
Length 2450 bp
Structure linear
Update Date 25-MAY-2014
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.[provided by RefSeq, Mar 2010].

RefSeq NP_077282.3
CDS 77..1195
Misc Feature(1)11..13
Misc Feature(2)11..13
Misc Feature(3)119..331
Misc Feature(4)119..331
Misc Feature(5)446..1174
Misc Feature(6)578..640
Misc Feature(7)<704..1177
Misc Feature(8)713..775
Misc Feature(9)878..940
Misc Feature(10)944..1006
Exon (1)1..346
Gene:FA2H
Gene Synonym:FAAH; FAH1; FAXDC1; SCS7; SPG35
Exon (2)347..439
Gene:FA2H
Gene Synonym:FAAH; FAH1; FAXDC1; SCS7; SPG35
Exon (3)440..582
Gene:FA2H
Gene Synonym:FAAH; FAH1; FAXDC1; SCS7; SPG35
Exon (4)583..689
Gene:FA2H
Gene Synonym:FAAH; FAH1; FAXDC1; SCS7; SPG35
Exon (5)690..862
Gene:FA2H
Gene Synonym:FAAH; FAH1; FAXDC1; SCS7; SPG35
Exon (6)863..1115
Gene:FA2H
Gene Synonym:FAAH; FAH1; FAXDC1; SCS7; SPG35
Exon (7)1116..2430
Gene:FA2H
Gene Synonym:FAAH; FAH1; FAXDC1; SCS7; SPG35
Translation MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISA DLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWD KDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLV LYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHM KPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTV FAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFH TLTPEKPHLKTQ
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Position Chain Variation Link
complement(82)-g, adbSNP:113471134
complement(102)-g, cdbSNP:12930201
complement(105)-g, adbSNP:12930196
179+g, tdbSNP:121918217
complement(305)-g, adbSNP:929881
complement(357)-dbSNP:
complement(357)-t, adbSNP:267604636
complement(365)-g, cdbSNP:35874850
complement(413)-g, adbSNP:141276237
complement(414)-t, cdbSNP:147632811
complement(426)-g, adbSNP:145990810
complement(477)-dbSNP:
complement(477)-c, adbSNP:199659429
complement(499)-g, adbSNP:201250822
complement(502)-g, adbSNP:142676543
complement(513)-t, gdbSNP:201162733
complement(519)-g, adbSNP:372350326
complement(520)-c, adbSNP:138087787
536+c, tdbSNP:387907040
complement(547)-g, cdbSNP:146060468
complement(552)-t, adbSNP:149561762
complement(555)-t, adbSNP:138240770
complement(562)-g, cdbSNP:371859188
complement(605)-dbSNP:
complement(605)-t, cdbSNP:201500782
complement(613)-t, cdbSNP:75711361
complement(616)-c, adbSNP:150423523
complement(642)-t, cdbSNP:370682047
complement(646)-t, gdbSNP:138892784
complement(675)-g, adbSNP:139261750
complement(696)-dbSNP:
complement(696)-g, adbSNP:372445274
complement(745)-t, gdbSNP:369504312
complement(748)-t, gdbSNP:376180814
complement(751)-g, cdbSNP:371803211
779+c, tdbSNP:387907039
783+c, tdbSNP:387907172
complement(794)-t, cdbSNP:367933620
complement(808)-g, adbSNP:142632840
complement(809)-t, cdbSNP:201126702
complement(826)-g, cdbSNP:146684287
complement(847)-g, adbSNP:371293493
complement(870)-dbSNP:
complement(870)-c, adbSNP:149133141
complement(879)-g, adbSNP:142644174
complement(896)-g, cdbSNP:373152103
complement(900)-g, adbSNP:374386471
complement(920)-t, cdbSNP:199815871
complement(922)-g, adbSNP:370973830
complement(923)-t, cdbSNP:138244546
complement(943)-g, cdbSNP:142533482
complement(955)-g, adbSNP:2301865
complement(962)-t, cdbSNP:373270982
964+a, gdbSNP:11554621
complement(974)-t, cdbSNP:199908318
complement(981)-g, adbSNP:202048141
complement(982)-t, cdbSNP:200053706
complement(997)-g, adbSNP:149698079
complement(1001)-t, cdbSNP:150427439
1009+c, tdbSNP:11554620
complement(1019)-g, adbSNP:200503137
complement(1041)-g, adbSNP:373010581
complement(1045)-t, cdbSNP:144071567
complement(1053)-c, adbSNP:139459274
complement(1131)-dbSNP:
complement(1131)-t, gdbSNP:375479162
complement(1136)-g, adbSNP:372391824
complement(1163)-t, gdbSNP:200545714
complement(1169)-g, cdbSNP:150795488
complement(1188)-g, adbSNP:141854925
complement(1189)-g, cdbSNP:140017632
complement(1201)-g, cdbSNP:367686182
complement(1203)-g, adbSNP:376143745
complement(1208)-g, adbSNP:373844222
complement(1229)-t, cdbSNP:75856125
complement(1233)-g, adbSNP:373162068
complement(1438)-t, cdbSNP:115024147
complement(1475..1476)-, tdbSNP:200454105
complement(1476..1478)-ggt, cggdbSNP:386792120
complement(1476)-t, gdbSNP:189104271
complement(1478)-g, cdbSNP:80215625
complement(1496)-g, adbSNP:192208552
complement(1502)-t, cdbSNP:115461339
complement(1599)-t, adbSNP:73614641
complement(1715)-t, cdbSNP:187456324
complement(1734)-t, gdbSNP:377168724
complement(1832)-g, cdbSNP:56033857
complement(1978)-t, cdbSNP:150692675
complement(1998)-g, adbSNP:71392612
complement(2032)-g, adbSNP:141862106
complement(2114)-t, gdbSNP:182769519
complement(2153)-g, adbSNP:115575599
complement(2214)-c, adbSNP:369101225
2259+c, gdbSNP:1046371
complement(2262)-t, cdbSNP:148090175
complement(2324)-t, cdbSNP:7184172
complement(2326)-t, gdbSNP:7189731
Gene SymbolFA2H
Gene SynonymFAAH; FAH1; FAXDC1; SCS7; SPG35
Chromosome16
Locus Map16q23
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_024306 Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. In-stock $418.00 $369.00 TBD
Title A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review .
Author Cao L, Huang XJ, Chen CJ and Chen SD.
Journal J. Neurol. Sci. 329 (1-2), 1-5 (2013)
Title Heterozygous FA2H mutations in autism spectrum disorders .
Author Scheid I, Maruani A, Huguet G, Leblond CS, Nygren G, Anckarsater H, Beggiato A, Rastam M, Amsellem F, Gillberg IC, Elmaleh M, Leboyer M, Gillberg C, Betancur C, Coleman M, Hama H, Cook EH, Bourgeron T and Delorme R.
Journal BMC Med. Genet. 14, 124 (2013)
Title Induction of the fatty acid 2-hydroxylase (FA2H) gene by Delta(9)-tetrahydrocannabinol in human breast cancer cells .
Author Takeda S, Harada M, Su S, Okajima S, Miyoshi H, Yoshida K, Nishimura H, Okamoto Y, Amamoto T, Watanabe K, Omiecinski CJ and Aramaki H.
Journal J Toxicol Sci 38 (2), 305-308 (2013)
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 JM, Berger I, Soffer D, Korman SH, 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 KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S and Crosby AH.
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 NL, Douangpanya S, Wang Y, Crumrine DA, Elias PM and Holleran WM.
Journal J. Biol. Chem. 282 (18), 13211-13219 (2007)
Title The human FA2H gene encodes a fatty acid 2-hydroxylase .
Author Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J and Hama H.
Journal J. Biol. Chem. 279 (47), 48562-48568 (2004)
Title Neurodegeneration with Brain Iron Accumulation Disorders Overview .
Author Gregory,A. and Hayflick,S.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Fatty Acid Hydroxylase-Associated Neurodegeneration .
Author Kruer,M.C., Gregory,A. and Hayflick,S.J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dystonia Overview .
Author Klein,C., Marras,C. and Munchau,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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