Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial (HADH)
The protein contains 314 amino acids for an estimated molecular weight of 34294 Da.
Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) (PubMed:10231530, PubMed:11489939, PubMed:16725361). Plays a role in the control of insulin secretion by inhibiting the activation of glutamate dehydrogenase 1 (GLUD1), an enzyme that has an important role in regulating amino acid-induced insulin secretion (By similarity). (updated: Oct. 7, 2020)
Protein identification was indicated in the following studies:
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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The reference OMIM entry for this protein is 231530
3-@hydroxyacyl-coa dehydrogenase deficiency
Hadh deficiency
Schad deficiency, formerly
A number sign (#) is used with this entry because 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency is caused by mutation in the HADH gene (601609).
CLINICAL FEATURES
Tein et al. (1991) reported a 16-year-old girl with 3-hydroxyacyl-CoA dehydrogenase deficiency resulting in juvenile-onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic/dilated cardiomyopathy. Biochemical analysis showed that HADH enzyme activity was markedly decreased in skeletal muscle cells, whereas it was normal in fibroblasts. Bennett et al. (1999) reported 3 unrelated patients with HADH deficiency resulting in sudden infant death. Clinically, there were variable features of hypotonia, hypoglycemia, hepatic steatosis, and hypoketotic dicarboxylic aciduria. Postmortem biochemical analysis showed residual liver HADH activity of 3.4%, 6.7%, and 11%; skeletal muscle activity was normal in all 3 patients. Treacy et al. (2000) reported a case of HADH deficiency presenting as unexpected infant death. O'Brien et al. (2000) reported a patient with HADH deficiency who presented at age 3 years with fulminant hepatic failure. Liver biopsy showed centrilobular necrosis and lipid accumulation. The patient received a living-related liver transplant and recovered.MOLECULAR GENETICS
In a patient with HADH deficiency presenting as fulminant hepatic failure, O'Brien et al. (2000) identified compound heterozygosity for 2 mutations in the HADH gene (601609.0001; 601609.0002).NOMENCLATURE
Yang et al. (2005) stated that the enzyme encoded by the HADH gene had been previously referred to as 'SCHAD.' Accordingly, some cases of human metabolic disorders previously reported as 'SCHAD deficiency' are in fact cases of 'HADH deficiency.' ... More on the omim web site
Oct. 20, 2020: Protein entry updated
Automatic update: Entry updated from uniprot information.
Nov. 17, 2018: Protein entry updated
Automatic update: OMIM entry 231530 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).