Any feedback?
Literature summary for 1.3.8.1 extracted from
- Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one centers experience (2012), Genet. Med., 14, 342-347.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| gene ACADS, DNA and amino acid sequence determination and analysis, genotyping | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| C1147T/G625A | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| C319G/G625A | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine and upper reaspiratory infections | Homo sapiens |
| C319T | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| C319T/G1095T | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| C488A/C988T | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine and reactive airway disease | Homo sapiens |
| C527A/T1164/G1165del/G625A | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| C867A | naturally occuring homozygote mutation, genotype, mutant shows increased isobutyrylcarnitine levels in the urine | Homo sapiens |
| G1095T/G625A | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| G1153T/G625A | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| G268A/1C147T/G625A | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| G268A/C1147T/G625A | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| G320A/G417C | naturally occuring mutation, genotype, mutant shows highly increased acylglycines and organic acid levels in the urine and eczema | Homo sapiens |
| G625A | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| G682/A683del/C988T | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| T455C/T443T | naturally occuring mutation, genotype, mutant shows increased isobutyrylcarnitine levels in the urine, and pyelonephritisand emesis | Homo sapiens |
| T529C | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine | Homo sapiens |
| T529C/G625A | naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine and atrial septal defect | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
gene ACADS | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| SCAD | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | SCAD deficiency causes a defect in the beta-oxidation of short-chain fatty acids of four to eight carbons in length. The majority of individuals with short-chain acyl-CoA dehydrogenase deficiency have normal growth and development. Two variants in the ACADS gene, 625G-A and 511C-T, are commonly found in the general population, that are associated with ethylmalonic aciduria and some decreased enzyme activity | Homo sapiens |
Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.
Release 2023.1 (January 2023)
Legal
Curated at
Member of
