LP188452-9
ACAD8 gene
Active
Descriptions
At least 19 mutations in the ACAD8 gene are known to cause isobutyryl-CoA dehydrogenase (IBD) deficiency.[OMIM: 604773] Some of these mutations reduce the activity of the IBD enzyme, while other mutations prevent the gene from producing any functional enzyme. As a result, valine is not broken down properly. An inability to process valine is thought to lead to reduced energy production and the features of IBD deficiency.[MedlinePlus Gene: ACAD8] Source: Genetic Home Reference, National Library of Medicine, ACAD8 gene
The ACAD8 gene (acyl-CoA dehydrogenase family, member 8) [HGNC Gene ID:87] is located on chromosome 11q25. This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009] [NCBI Gene ID:27034] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- ACAD8 gene
- Part Display Name
- ACAD8 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-12-31
- Construct for LOINC Short Name
- ACAD8
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ACAD8 基因 Synonyms: Acyl-CoA Dehydrogenase Family, Member 8; |
| es-ES | Spanish (Spain) | Gen ACAD8 |
| it-IT | Italian (Italy) | ACAD8, gene Synonyms: Gene ACAD8 |
| tr-TR | Turkish (Turkey) | ACAD8 geni |
| nl-NL | Dutch (Netherlands) | ACAD8-gen Synonyms: ACAD8 gen |
| fr-FR | French (France) | ACAD8 gène |
| pl-PL | Polish (Poland) | ACAD8 gen Synonyms: Gen ACAD8 |
| el-GR | Greek (Greece) | Γονίδιο ACAD8 Synonyms: Γονίδιο ACAD8 |
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