anti-HADH / HCDH (beta) Antibody

Product name : anti-HADH / HCDH (beta) Antibody

Catalog number : AP21322AF-N

Supplier : acr

Price : 398 EUR

Size : 10 mg

More about:

Classification : WD repeat domain containing

Concept : Scope note: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.

Discovery year : 2004-03-31

Entrez Gene : hydroxyacyl-CoA dehydrogenase  (HADH)

Entrez gene record : 51343

GenBank acession : AF083810

Gene : FZR1

Gene ontology - Biological process : response to insulin response to drug fatty acid beta-oxidation response to activity negative regulation of insulin secretion

Gene ontology - Cellular component : cytoplasm nucleoplasm mitochondrion mitochondrial matrix mitochondrial inner membrane

Gene ontology - Molecular function : NAD binding 3-hydroxyacyl-CoA dehydrogenase activity

Havana BLAST/BLAT : OTTHUMG00000180747

Identity : 24824

InterPro : NAD(P)-binding domain  (HMGA1P8) 3-hydroxyacyl-CoA dehydrogenase  (EHHADH) 3-hydroxyacyl-CoA dehydrogenase, conserved site 3-hydroxyacyl-CoA dehydrogenase, C-terminal 6-phosphogluconate dehydrogenase C-terminal domain-like 3-hydroxyacyl-CoA dehydrogenase, NAD binding 6-phosphogluconate dehydrogenase, domain 2

Kegg : Lysine degradation - Homo sapiens (human) Fatty acid degradation - Homo sapiens (human) Valine, leucine and isoleucine degradation - Homo sapiens (human) Tryptophan metabolism - Homo sapiens (human) Butanoate metabolism - Homo sapiens (human) Fatty acid elongation - Homo sapiens (human)

Locus : 19p13.3

Long gene name : fizzy and cell division cycle 20 related 1

Name : Blotting, Western

PubMed : Observational study of gene-disease association. (HuGE Navigator) Patients with the G1528C mutation of 3-hyroxyacyl-CoA dehydrogenase exhibit hepatomegaly and steatosis of the liver, as well as accumulation of fat in the myocardium, renal tubules, and skeletal muscle To investigate its function in this catalytic dyad, Glu(170) was replaced with glutamine (E170Q), and the mutant enzyme was characterized. Substrate and cofactor binding were unaffected by the mutation; E170Q exhibited diminished catalytic activity SCHAD deficiency can result in persistent hyperinsulinemic hypoglycemia of infancy Observational study of gene-disease association. (HuGE Navigator) This case indicates that mutations of the HADH gene should be sought in hyperinsulinemic patients in whom diffuse form of hyperinsulinemic hypoglycemia. We recommend that HADH sequence analysis is considered in all patients with diazoxide-responsive hyperinsulinemic hypoglycemia when recessive inheritance is suspected Clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. in a cohort of hyperinsulinemic hypoglycemia patients from Isfahan, Iran, 78% were noted to have disease-causing mutations: 48% had HADH mutations and 26% had ABCC8 mutations. We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636 471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression

Pubmed identfication : 9734353 11003657

Qualifiers : classification, economics, history, instrumentation, methods, standards, trends, utilization, veterinary, statistics & numerical data, ethics

RefSeq identity : NM_016263


Synonyms gene : HADHSC

Synonyms gene name : fizzy/cell division cycle 20 related 1 (Drosophila) fizzy/cell division cycle 20 related 1

Synonyms name : CDC20 homolog 1

Tree numbers : E05.196.401.143 E05.301.300.096 E05.478.566.320.200 E05.601.262 E05.601.470.320.200

WikiPathWays : Fatty Acid Beta Oxidation Tryptophan metabolism Mitochondrial LC-Fatty Acid Beta-Oxidation Amino Acid metabolism Fatty Acid Biosynthesis