Anti- HADH Antibody

Product name : Anti- HADH Antibody

Catalog number : GEN2521940

Supplier : MBS Polyclonals

Price : 265 EUR

Size : 0.06 ml

More about:

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 : 2001-06-22

Entrez Gene : hydroxyacyl-CoA dehydrogenase  (HADH)

Entrez gene record : 3033

GenBank acession : X96752


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 : OTTHUMG00000131810

Identity : 4804

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 : 4q25

Long gene name : hydroxyacyl-CoA dehydrogenase

Name : Blotting, Western

PubMed : Observational study of gene-disease association. (HuGE Navigator) Observational study of gene-disease association. (HuGE Navigator) Congenital hyperinsulinism due to mutations in HNF4A and HADH. 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 Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. 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 Paretic muscle in hemiparetic stroke survivors had lower HAD concentration. The most frequently seen mutations in Turkish patients with congenital hyperinsulinism (CHI) were ATP binding cassette subfamily C member 8 (ABCC8) gene, followed by 3-hydroxyacyl CoA dehydrogenase (HADH) and kcnj11 channel (KCNJ11) genes.

Pubmed identfication : 975867 16176262

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

RefSeq identity : NM_005327


Synonyms gene : HADHSC

Synonyms gene name : L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain hydroxyacyl-Coenzyme A dehydrogenase

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