Endoplasmic reticulum associated amyloid beta peptide binding protein
Endoplasmic reticulum-associated amyloid beta-peptide-binding protein
ER associated amyloid beta-binding protein
Hydroxyacyl CoA Dehydrogenase type II
Hydroxyacyl Coenzyme A dehydrogenase type II
Hydroxysteroid (17 beta) dehydrogenase 10
Mental retardation X linked syndromic 11
Mitochondrial L3 Hydroxyacyl CoA Dehydrogenase
Mitochondrial ribonuclease P protein 2
Mitochondrial RNase P protein 2
Short chain dehydrogenase/reductase family 5C member 1
Short chain L 3 hydroxyacyl CoA dehydrogenase type 2
Short chain type dehydrogenase/reductase XH98G2
Short-chain type dehydrogenase/reductase XH98G2
Type 10 17b HSD
Type 10 17beta hydroxysteroid dehydrogenase
Type II HADH
機能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).
組織特異性Expressed in normal tissues but is overexpressed in neurons affected in AD.
関連疾患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. 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. 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.
配列類似性Belongs to the short-chain dehydrogenases/reductases (SDR) family.