Protein Variants | Comment | Organism |
---|---|---|
additional information | identifications of gestation infant mutations in LCHAD, the placentas with maternal floor infarction/massive perivillous fibrin phenotype, MFI/MPVFD, demonstrate heterozygous mutations in the LCHAD gene, phenotypes, overview | Homo sapiens |
Q358K | heterozygous mutation in exon 11, 1072C/A, a naturally mutation occuring in the LCHAD coding region, HADHA, causing growth-restriction in a 25-4/7 week gestation female infant | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
LCHAD | - |
Homo sapiens |
long-chain 3-hydroxyacyl coenzyme A dehydrogenase | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
7.2 | - |
assay at | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
NAD+ | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | the placenta of an 8-month-old child diagnosed with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency shows maternal floor infarction/massive perivillous fibrin, MFI/MPVFD, phenotype, overview | Homo sapiens |