Gene: [01p31/ACADM] acyl-CoA dehydrogenase M (medium straight-chain fa C4/C12); hypoglycemia, non-ketotic, and secondary carnitine deficiency; dicarboxylicaciduria (MCAD deficiency); Reye-like syndrome (fatty acids beta-oxidation familial defect);
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FUN |
[1] Systematic name: acyl-CoA:(acceptor) 2,3-oxidoreductase.
[2] Reaction catalyzed: Acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF. [3] The acyl-CoA dehydrogenase M participates in the initiation of beta-oxidation of medium straight-chain fatty acids (C4-C12), that requires ACADM to bind with another flavoprotein. The latter is composed of 2 subunits, see GEM:15q2/ETFA and GEM:19q134/ETFB." |
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MOP |
The active enzyme is a homotetramer. Each of its four identical subunits is synthesized as ACADM propeptide of MM 50 kD while the mature ACADM peptide has MM 46 kD. The 4 kD difference is due to a leader peptide being cut out after the protein transition from cytosol into mitochondria." |
|
FAG |
Genes encoding other enzymes of the acyl-CoA dehydrogenase
group have also been identified. This group includes the enzymes for
short straight-chain (GEM:12q2/ACADS), long
straight-chain
(GEM:02q3/ACADL) and very long straight-chain
fatty acids
(GEM:17p11/ACADVL), as well as the enzymes
dehydrating isovaleryl-CoA
(GEM:15q1/ACADI), glutaryl-CoA (GEM:19p132/GCDH), and
branched-chain substrates with the alpha-methyl group
(2-methyl-butyryl-CoA and isobutyryl-CoA). The latter enzyme is denoted as 2-'ME'BCAD; the corresponding gene is not yet mapped (GEM:00.0/ACADB). All genes of acyl-CoA dehydrogenases are likely to have originated from the same ancestral gene. They form a multigene family, as follows from analysis of the corresponding amino acid and nucleic acid sequences." |
|
HET |
Clinical genetic data on various disturbances of the fatty acid oxidation in mitochondria are not organized systematically. The MIM catalogue describes these disturbances as independent markers: MIM:201450 (corresponding to GEM:01p31/ACADM), MIM:201460 (GEM:02q3/ACADL), MIM:201470 (GEM:12q2/ACADS), MIM:243500 (GEM:15q1/ACADI*), MIM:201475 (GEM:17p11/ACADVL), MIM:231670 (glutaric aciduria I, glutaryl-CoA dehydrogenase deficiency; GEM:19p132/GCDH), MIM:231680 (glutaric aciduria IIA, MADD; GEM:15q2/ETFA), MIM:130410 (glutaric aciduria IIB; GEM:19q134/ETFB), MIM:231675 (glutaric aciduria IIC; GEM:04q3/ETFDH)." |
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REF |
PHE,PAT,MEB,FOG "Amendt BA, Rhead WJ: J Clin Invest, 76, 963-969, 1985 PND "Bennett MJ &: Prenatal Diag, 7, 135-141, 1987 PRO,SEQ,POL,MUT "Blakemore AIF &: Lancet, 337, 298-299, 1991 PHE,PAT,MEB,FOG "Coates PM &: Pediatr Res, 19, 671-676, 1985 IDN,FUN,PEP "Crane FL &: JBC, 218, 701-?, 1956 MUT,MOL,CAG "Curtis D &: Clin Genet, 40, 283-286, 1991 MUT,MOL,CAG "Ding JH &: AJHG, 50, 229-233, 1992 PHE,PAT,MEB,FOG "Divry P &: Acta Paediatr Scand, 72, 943-949, 1983 IDN,PEP,EVO "Finocchiaro &: JBC, 262, 7982-7989, 1987 MUT,MOL,CAG "Gregersen N &: Hum Hered, 43, 342-350, 1993 PRO,SEQ,POL,MUT "Gregersen N &: Hum Genet, 86, 545-551, 1991 IDN,FUN,PEP "Hauge JG &: JBC, 219, 727-?, 1956 PHE,PAT "Iafolla AK &: J Pediatr, 124, 409-415, 1994 PRO,SEQ,POL,MUT "Kelly DP &: PNAS, 87, N23, 9236-9240, 1990 PRO,SEQ,EXP,MOP "Kelly DP &: PNAS, 84, N12, 4068-4072, 1987 POL,MOL,LIN "Kidd JR &: Genomics, 6, N1, 89-93, 1990 MUT,MOL,CAG "Kolvraa S &: Hum Genet, 87, 425-428, 1991 PHE,PAT,MEB,FOG "Kolvraa S &: Clin Chim Acta, 126, 53-67, 1982 MUT,MOL,CAG "Leung KC &: J Pediatr, 121, 965-968, 1992 PRO,SEQ,EVO,MOU "Matsubara Y &: JBC, 262, N21, 10104-10108, 1987 PRO,LOC "Matsubara Y &: PNAS, 83, N17, 6543-6547, 1986 PHE,PAT,MEB,FOG "Miller ME &: Pediatr Res, 31, 305-307, 1992 PHE,PAT,MEB,FOG "Naylor EW &: AJHG, 30, A35, 1978 LOC,MAP "Pakstis &: CCG, 51, (HGM10), 1056, 1989 PHE,PAT,MEB,FOG "Rhead WJ &: Science, 221, 73-75, 1983 PHE,PAT,MEB,FOG "Roe CR &: J Pediatr, 108, 13-18, 1986 REV,PAT,NOM "Siliprandi &: Clin Chim Acta, 183, 3-12, 1989 PHE,PAT,MEB,FOG "Similia S &: Am J Med Genet, 18, 543-545, 1984 PHE,PAT,MEB,FOG "Stanley CA &: Pediatr Res, 17, 877-884, 1983 REV,MEB,PAT,LOC,FAG "Tanaka K &: Enzyme, 38, 91-107, 1987 PHE,PAT,MEB,FOG "Taubman B &: Pediatrics, 79, 382-385, 1987 PAT,MEB,MUT,MOP "Yokota I &: JBC, 267, 26004-26010, 1992 MUT,MOL,CAG "Yokota I &: AJHG, 47, A171, 1990 |
|
KEY |
lip, neu, mtbd, mito |
|
CLA |
coding, basic |
|
LOC |
01 p31 |
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MIM |
MIM: 201450 |
|
EZN |
ENZYME: 1.3.99.3 |
