enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

From UniProt: TBA8_HUMAN:

Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

From NCBI Gene:

  • Fanconi renotubular syndrome 3

From UniProt: ECHP_HUMAN:

Fanconi renotubular syndrome 3 (FRTS3): A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. [MIM:615605]

From UniProt: TBA8_HUMAN:

Cortical dysplasia, complex, with other brain malformations 8 (CDCBM8): A disease characterized by extensive polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent corpus callosum and colpocephaly. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. [MIM:613180]

Cytogenetic Location: 3q27.2, which is the long (q) arm of chromosome 3 at position 27.2

Molecular Location: base pairs 185,190,624 to 185,282,886 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q27.2, which is the long (q) arm of chromosome 3 at position 27.2
  • ECHD
  • FRTS3
  • L-PBE
  • LBFP
  • LBP
  • PBFE