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
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).
Expressed in normal tissues but is overexpressed in neurons affected in AD.
Involvement in 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. 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.
Belongs to the short-chain dehydrogenases/reductases (SDR) family.