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);

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."

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)."

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

MIM

MIM: 201450

EZN

ENZYME: 1.3.99.3

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