help  | about  | cite  | software

Gene : ACADM Homo sapiens

Name  ? acyl-CoA dehydrogenase medium chain Cytological Location  1p31.1
Brief Description  acyl-CoA dehydrogenase medium chain
description  This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ACAD1,
  • NM_000016,
  • OTTHUMG00000009784,
  • MCAD,
  • medium-chain acyl-CoA dehydrogenase,
  • ACAD1,
  • M16827,
  • uc001dgw.6,
  • HGNC:89,
  • MCAD,
  • MCADH,
  • ACADM,
  • acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain,
  • MCADH
  • identifiers:
  • 34,
  • ENSG00000117054,
  • ACADM

Genome feature

Region: gene ? Length: 39333  
Location: 1:75724347-75763679 Cyto location: 1p31.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

20 Data Sets

11 Homologues

0 Located Features

90 Rna Seq Results