protein

ABAD / HADH2 Immunizing Peptide

MBS426725

0.1 mg

190 USD

Peptide

ABAD / HADH2 Immunizing Peptide

ABAD / HADH2

HSD17B10; HADH2; ABAD; ERAB; MHBD; 17b-HSD10; hydroxyacyl-Coenzyme A dehydrogenase, type II; type 10 17b-HSD; AB-binding alcohol dehydrogenase; type 10 17beta-hydroxysteroid dehydrogenase; hydroxysteroid (17-beta) dehydrogenase 10; RP3-339A18.2; 17b-HSD10; ABAD / HADH2

3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1; 3-hydroxyacyl-CoA dehydrogenase type-2; 3-hydroxyacyl-CoA dehydrogenase type-2; hydroxysteroid (17-beta) dehydrogenase 10; 17-beta-hydroxysteroid dehydrogenase 10 (EC:1.1.1.51); 17-beta-HSD 10; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase (EC:1.1.1.178); 3-hydroxyacyl-CoA dehydrogenase type II; Endoplasmic reticulum-associated amyloid beta-peptide-binding protein; Mitochondrial ribonuclease P protein 2; Mitochondrial RNase P protein 2; Short chain dehydrogenase/reductase family 5C member 1; Short-chain type dehydrogenase/reductase XH98G2; Type II HADH

HSD17B10

ABAD; HADH2

HSD17B10; HSD17B10; ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; 17b-HSD10; DUPXp11.22; ERAB; HADH2; MRPP2; SCHAD; SDR5C1; XH98G2; 17-beta-HSD 10; Mitochondrial RNase P protein 2

HCD2_HUMAN

Human, Mouse, Rat, Dog, Cow

261

CIRLDGAIRMQP

100ug of dried peptide

Shipped at ambient temperature, store at -20 degree C

4758504

NP_004484.1

NM_004493.2

25,984 Da

Alzheimer's Disease Pathway (83097); Alzheimer's Disease Pathway (509); Alzheimers Disease Pathway (672448); Branched-chain Amino Acid Catabolism Pathway (1270161); Gene Expression Pathway (1269649); L-isoleucine Degradation I Pathway (139163); Metabolic Pathways (132956); Metabolism Pathway (1269956); Metabolism Of Amino Acids And Derivatives Pathway (1270158); Tryptophan Metabolism Pathway (198850)

This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]

HADH2: Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD). Defects in HSD17B10 are the cause of 2-methyl-3- hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency). MHBD deficiency leads to neurological abnormalities, including psychomotor retardation, and, in virtually all patients, loss of mental and motor skills. Defects in HSD17B10 are the cause of mental retardation syndromic X-linked type 10 (MRXS10). MRXS10 is characterized by mild mental retardation, choreoathetosis and abnormal behavior. A chromosomal microduplication involving HSD17B10 and HUWE1 is the cause of mental retardation X-linked type 17 (MRX17); also known as mental retardation X-linked type 31 (MRX31). Mental retardation is characterized by significantly sub- average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X- linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: EC 1.1.1.51; Oxidoreductase; EC 1.1.1.178; Mitochondrial; EC 1.1.1.35; Amino Acid Metabolism - valine, leucine and isoleucine degradation. Chromosomal Location of Human Ortholog: Xp11.2. Cellular Component: cytoplasm; mitochondrial matrix; mitochondrion; plasma membrane. Molecular Function: 3(or 17)beta-hydroxysteroid dehydrogenase activity; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; 3-hydroxyacyl-CoA dehydrogenase activity; 7-alpha-hydroxysteroid dehydrogenase activity; acetoacetyl-CoA reductase activity; beta-amyloid binding; estradiol 17-beta-dehydrogenase activity; estrogen receptor binding; identical protein binding; NAD binding; protein binding; steroid binding. Biological Process: branched chain family amino acid catabolic process; cell aging; Leydig cell differentiation; lipid metabolic process; protein homotetramerization. Disease: 17-beta-hydroxysteroid Dehydrogenase X Deficiency; Mental Retardation, X-linked, Syndromic 10

0.1 mg

190 USD