Showing Protein Alpha-methylacyl-CoA racemase (HMDBP02680)

• 8183

1. 2-methylacyl-CoA racemase

• 27-Hydroxylase Deficiency
• bile acid biosynthesis
• Cerebrotendinous Xanthomatosis (CTX)
• Congenital Bile Acid Synthesis Defect Type II
• Congenital Bile Acid Synthesis Defect Type III
• Familial Hypercholanemia (FHCA)
• fatty acid metabolism
• Peroxisome
• Primary bile acid biosynthesis
• Primary bile acid biosynthesis
• Zellweger Syndrome

1. Mitochondrion
2. Peroxisome

>1149 bp
ATGGCACTGCAGGGCATCTCGGTCATGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGT
GCTATGGTCCTGGCTGACTTCGGGGCGCGTGTGGTACGCGTGGACCGGCCCGGCTCCCGC
TACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCG
CGGGGAGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTC
CGCCGCGGTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCA
AGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCT
GGCCACGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGT
GAGAATCCGTATGCCCCGCTGAATCTCCTGGCTGACTTTGCTGGTGGTGGCCTTATGTGT
GCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGACAAGGGTCAGGTCATT
GATGCAGATATGGTGGAAGGAACAGCATATTTAAGTTCTTTTCTGTGGAAAACTCAGAAA
TCGAGTCTGTGGGAAGCACCTCGAGGACAGAACATGTTGGATGGTGGAGCACCTTTCTAT
ACGACTTACAGGACAGCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAACCCCAGTTC
TACGAGCTGCTGATCAAAGGACTTGGACTAAAGTCTGATGAACTTCCCTCTCAGATGAGC
ACGGATGATTGGCCAGAAATGAAGAAGAAGTTTGCAGATGTATTTGCAAAGAAGACGAAG
GCAGAGTGGTGTCAAATCTTTGACGGCACAGATGCCTGTGTGACTCCGGTTCTGACTTTT
GAGGAGGTTGTTCATCATGATCACAACAAGGAACGGGGCTCGTTTATCACCAGTGAGGAG
CAGGACGTGAGCCCCCGCCCTGCACCTCTGCTGTTAAACACCCCAGCCATCCCTTCTTTC
AAAAGGGATCCTTTCATAGGAGAACACACTGAGGAGATACTTGAAGAATTTGGATTCAGC
CGCGAAGAGATTTATCAGCTTAACTCAGATAAAATCATTGAAAGTAATAAGGTAAAAGCT
AGTCTCTAA

• CoA_transf_3 (PF02515 )

>Alpha-methylacyl-CoA racemase
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQP
RGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLA
GHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVI
DANMVEGTAYLSSFLWKTQKSSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQF
YELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFAKKTKAEWCQIFDGTDACVTPVLTF
EEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNTPAIPSFKRDPFIGEHTEEILEEFGFS
REEIYQLNSDKIIESNKVKASL

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2. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed:17974005 ]
3. Amery L, Fransen M, De Nys K, Mannaerts GP, Van Veldhoven PP: Mitochondrial and peroxisomal targeting of 2-methylacyl-CoA racemase in humans. J Lipid Res. 2000 Nov;41(11):1752-9. [PubMed:11060344 ]
4. Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ: Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet. 2000 Feb;24(2):188-91. [PubMed:10655068 ]
5. Schmitz W, Albers C, Fingerhut R, Conzelmann E: Purification and characterization of an alpha-methylacyl-CoA racemase from human liver. Eur J Biochem. 1995 Aug 1;231(3):815-22. [PubMed:7649182 ]
6. Setchell KD, Heubi JE, Bove KE, O'Connell NC, Brewsaugh T, Steinberg SJ, Moser A, Squires RH Jr: Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology. 2003 Jan;124(1):217-32. [PubMed:12512044 ]