ALFRED
      The ALlele FREquency Database   
A resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chainLO000198SACADM11p31
Synonyms: MCAD ;
Frequency Display Formats: 
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GDB gene information   GenBank sequence   GeneReviews description    UniGene   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: ACADM encodes the medium-chain specific (C4 to C12 straight chain) acyl-coenzyme A dehydrogenase (MCAD), which catalyzes the first reaction in the beta-oxidation of fatty acids with 6 to 12 carbons (Ikeda et al., 1985) [PubMed ID: 3968063]. ACADM has been mapped to the short arm of chromosome 1, at 1p31, by in situ hybridization (Matsubara et al., 1986) [PubMed ID: 3462713]. Genetic deficiency of MCAD is the most common defect in mitochondrial b-oxidation in humans (Kolvraa et al., 1982) [PubMed ID: 7172449]. Inherited MCAD deficiency is an autosomal recessive disorder. ACADM has been characterized for normal variation by restriction fragment length polymorphisms (RFLPs) and mapped by linkage analysis to 4.2 cM from D1S2 and 11.7 cM from PGM1. Several of the RFLPs originally studied (Kidd et al., 1990 [PubMed ID: 1968047]; Blakemore et al., 1990 [PubMed ID: 1692618 and 1971104]) have been located in the genomic sequence.
Sites within this locus ordered by their chromosomal position in the latest NCBI build:
Site NamedbSNP rs#Chr-PositionStatus
C___8367965_1_rs1146572   75966894
intron 5 SacI rs2153126   75971933
C___8367929_10rs1146574   75975259
intron 7 TaqI rs4646960   75983691
rs1146581rs1146581   75985612
intron 10 BamHI rs4646961   75989757
rs12070736rs12070736   75991620
rs11803967rs11803967   75999072
rs1146586rs1146586   76000562
rs8763rs8763   76001708

References:
- Arakawa H, Uetanaka K, Maeda M, Tsuji A, Matsubara Y, Narisawa K. "Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency". J. Chromatogr. A. 680:517-23. (1994) Online citation.

- Blakemore AI, Engel PC, Curtis D. "BamHI and MspI RFLP's in strong linkage disequilibrium at the medium chain acyl-coenzyme A dehydrogenase locus (ACADM chromosome 1)". Nucleic Acids Res. 18:2838. (1990) Online citation.

- Blakemore AI, Engel PC, Curtis D. "PstI RFLP at the medium chain acyl-coenzyme A dehydrogenase locus (ACADM chromosome 1)". Nucleic Acids Res. 18:2838. (1990) Online citation.

- Gregersen N, Winter V, Curtis D, Deufel T, Mack M, Hendrickx J, Willems PJ, Ponzone A, Parrella T, Ponzone R, et al. "Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe". Hum. Hered. 43:342-50. (1993) Online citation.

- Ikeda Y, Hale DE, Keese SM, Coates PM, Tanaka K. "Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency". Pediatr. Res. 20:843-7. (1986) Online citation.

- Ikeda Y, Okamura-Ikeda K, Tanaka K. "Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme". J. Biol. Chem. 260:1311-25. (1985) Online citation.

- Kidd JR, Matsubara Y, Castiglione CM, Tanaka K, Kidd KK. "The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic". Genomics 6:89-93. (1990) Online citation.

- Kolvraa S, Gregersen N, Christensen E, Hobolth N. "In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase". Clin. Chim. Acta. 126:53-67. (1982) Online citation.

- Matsubara Y, Kraus JP, Yang-Feng TL, Francke U, Rosenberg LE, Tanaka K. "Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1". Proc. Natl. Acad. Sci. U. S. A. 83:6543-7. (1986) Online citation.

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© 2009 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan