ACAD8 - acyl-CoA dehydrogenase family member 8 Gene
Also Known as IBDH; ARC42; ACAD-8
Species: Homo sapiens
About ACAD8
This gene has 17 transcripts (splice variants), 200 orthologues, 14 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 16.8), prostate (RPKM 12.2) and 25 other tissues.
Summary
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]
ACAD8 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_014384.3 | NP_055199.1 | isobutyryl-CoA dehydrogenase, mitochondrial |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
33961781 | GOA |
ACAD8 Protein Structure
Acyl-CoA_dh_N: Acyl-CoA dehydrogenase, N-terminal domain (42 - 153)
Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (157 - 208)
Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (263 - 413)
- 0
- 100
- 200
- 300
- 415 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
isobutyryl-CoA dehydrogenase, mitochondrial |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
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| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
|
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
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| Immunodeficiency 48 |
|
|
| Encephalopathy, Ethylmalonic |
|
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| Glutaric Acidemia I |
|
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| Multiple Acyl-Coa Dehydrogenase Deficiency |
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|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | ACAD8 | MGD | MGI:1914198 |
| Felis catus | ACAD8 | VGNC | VGNC:68722 |
| Bos taurus | ACAD8 | VGNC | VGNC:25522 |
| Rattus norvegicus | ACAD8 | RGD | RGD:1564209 |
| Canis familiaris | ACAD8 | VGNC | VGNC:37492 |
| Macaca mulatta | ACAD8 | VGNC | VGNC:69593 |
| Others | ACAD8 | NCBI |