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Literature summary for 1.1.1.211 extracted from

  • Griffin, A.C.; Strauss, A.W.; Bennett, M.J.; Ernst, L.M.
    Mutations in long-chain 3-hydroxyacyl coenzyme A dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition (2012), Pediatr. Dev. Pathol., 15, 368-374.
    View publication on PubMed
Search for more literature for 1.1.1.211

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
 Homo sapiens 5739
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
LCHAD
-
 Homo sapiens
long-chain 3-hydroxyacyl coenzyme A dehydrogenase
-
 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.2
-
 assay at Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NAD+
-
 Homo sapiens

General Information

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