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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

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RefSeq Version NM_024306.4, 291621627
Length 2450 bp
Structure linear
Update Date 17-APR-2013
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].


##Evidence-Data-START## Transcript exon combination :: AK058016.1, BC017049.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

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)458..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
complement(179)-t, gdbSNP:121918217
complement(305)-g, adbSNP:929881
complement(365)-dbSNP:
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(520)-c, adbSNP:138087787
complement(547)-g, cdbSNP:146060468
complement(552)-t, adbSNP:149561762
complement(555)-t, adbSNP:138240770
complement(605)-dbSNP:
complement(605)-t, cdbSNP:201500782
complement(613)-t, cdbSNP:75711361
complement(616)-c, adbSNP:150423523
complement(646)-t, gdbSNP:138892784
complement(675)-g, adbSNP:139261750
complement(808)-dbSNP:
complement(808)-g, adbSNP:142632840
complement(809)-t, cdbSNP:201126702
complement(826)-g, cdbSNP:146684287
complement(870)-dbSNP:
complement(870)-c, adbSNP:149133141
complement(879)-g, adbSNP:142644174
complement(920)-t, cdbSNP:199815871
complement(923)-t, cdbSNP:138244546
complement(943)-g, cdbSNP:142533482
complement(955)-g, adbSNP:2301865
complement(964)-g, adbSNP: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
complement(1009)-t, cdbSNP:11554620
complement(1019)-g, adbSNP:200503137
complement(1045)-t, cdbSNP:144071567
complement(1053)-c, adbSNP:139459274
complement(1163)-dbSNP:
complement(1163)-t, gdbSNP:200545714
complement(1169)-g, cdbSNP:150795488
complement(1188)-g, adbSNP:141854925
complement(1189)-g, cdbSNP:140017632
complement(1229)-t, cdbSNP:75856125
complement(1438)-t, cdbSNP:115024147
complement(1475..1476)-, tdbSNP:200454105
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(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(2259)-g, cdbSNP: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 C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation .
Author Panteghini,C., Zorzi,G., Venco,P., Dusi,S., Reale,C., Brunetti,D., Chiapparini,L., Zibordi,F., Siegel,B., Garavaglia,B., Simonati,A., Bertini,E., Nardocci,N. and Tiranti,V.
Journal Semin Pediatr Neurol 19 (2), 75-81 (2012)
Title FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype .
Author Garone,C., Pippucci,T., Cordelli,D.M., Zuntini,R., Castegnaro,G., Marconi,C., Graziano,C., Marchiani,V., Verrotti,A., Seri,M. and Franzoni,E.
Journal Dev Med Child Neurol 53 (10), 958-961 (2011)
Title 2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase .
Author Dan,P., Edvardson,S., Bielawski,J., Hama,H. and Saada,A.
Journal Lipids Health Dis 10, 84 (2011)
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)


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