Total ERAB Cell-Based Colorimetric ELISA Kit
- 货号：KA3250C
- 应用：ELISA
- 种属：Human;Mouse;Rat
- 其他名称：
- 3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.35) (17-beta-hydroxysteroid dehydrogenase 10) (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 type dehydrogenase/reductase XH98G2) (Type II HADH)
- 背景：
- catalytic activity:(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methylacetoacetyl-CoA + NADH.,catalytic activity:(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.,disease:A chromosomal microduplication involving HSD17B10 and HUWE1 is the cause of mental retardation X-linked type 17 (MRX17) [MIM:300705]; 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.,disease:Defects in HSD17B10 are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]. MHBD deficiency leads to neurological abnormalities, including psychomotor retardation, and, in virtually all patients, loss of mental and motor skills.,disease:Defects in HSD17B10 are the cause of mental retardation syndromic X-linked type 10 (MRXS10) [MIM:300220]. MRXS10 is characterized by mild mental retardation, choreoathetosis and abnormal behavior.,function:Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/RG9MTD1, 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).,similarity:Belongs to the short-chain dehydrogenases/reductases (SDR) family.,subunit:Homotetramer (By similarity). Interacts with MRPP1/RG9MTD1 and MRPP3/KIAA0391.,tissue specificity:Expressed in normal tissues but is overexpressed in neurons affected in AD.,
- 功能：
- reproductive developmental process, RNA processing, tRNA metabolic process, protein complex assembly, sex differentiation, aging, cell aging, tRNA processing, gonad development, male gonad development, Leydig cell differentiation, ncRNA processing, ncRNA metabolic process, macromolecular complex subunit organization,development of primary sexual characteristics, development of primary male sexual characteristics, male sex differentiation, reproductive structure development, reproductive cellular process, protein oligomerization, protein homooligomerization, protein tetramerization, protein homotetramerization, oxidation reduction, macromolecular complex assembly, protein complex biogenesis,
- 细胞定位：
- Mitochondrion . Mitochondrion matrix, mitochondrion nucleoid .
- 组织表达：
- Ubiquitously expressed in normal tissues but is overexpressed in neurons affected in AD.
