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功能
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).
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组织特异性
Expressed in normal tissues but is overexpressed in neurons affected in AD.
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疾病相关
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.
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序列相似性
Belongs to the short-chain dehydrogenases/reductases (SDR) family.
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细胞定位
Mitochondrion.
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Information by UniProt
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数据库链接
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别名
- 17 beta hydroxysteroid dehydrogenase 10 antibody
- 17 beta hydroxysteroid dehydrogenase type 10 antibody
- 17-beta-HSD 10 antibody
- 17-beta-hydroxysteroid dehydrogenase 10 antibody
- 17b HSD10 antibody
- 3 hydroxy 2 methylbutyryl CoA dehydrogenase antibody
- 3 hydroxyacyl CoA dehydrogenase type 2 antibody
- 3 hydroxyacyl CoA dehydrogenase type II antibody
- 3-hydroxy-2-methylbutyryl-CoA dehydrogenase antibody
- 3-hydroxyacyl-CoA dehydrogenase type II antibody
- 3-hydroxyacyl-CoA dehydrogenase type-2 antibody
- AB binding alcohol dehydrogenase antibody
- ABAD antibody
- Ads9 antibody
- Amyloid beta binding polypeptide antibody
- Amyloid beta peptide binding alcohol dehydrogenase antibody
- Amyloid beta peptide binding protein antibody
- Amyloid beta peptide binding protein antibody
- CAMR antibody
- DUPXp11.22 antibody
- Endoplasmic Reticulum Amyloid Binding Protein antibody
- Endoplasmic reticulum associated amyloid beta peptide binding protein antibody
- Endoplasmic reticulum-associated amyloid beta-peptide-binding protein antibody
- ER associated amyloid beta-binding protein antibody
- ERAB antibody
- HADH 2 antibody
- HADH2 antibody
- HCD 2 antibody
- HCD2 antibody
- HCD2_HUMAN antibody
- Hsd17b10 antibody
- Hydroxyacyl CoA Dehydrogenase type II antibody
- Hydroxyacyl Coenzyme A dehydrogenase type II antibody
- Hydroxysteroid (17 beta) dehydrogenase 10 antibody
- Mental retardation X linked syndromic 11 antibody
- MHBD antibody
- Mitochondrial L3 Hydroxyacyl CoA Dehydrogenase antibody
- Mitochondrial ribonuclease P protein 2 antibody
- Mitochondrial RNase P protein 2 antibody
- MRPP2 antibody
- MRX17 antibody
- SCHAD antibody
- SDR5C1 antibody
- Short chain dehydrogenase/reductase family 5C member 1 antibody
- Short chain L 3 hydroxyacyl CoA dehydrogenase type 2 antibody
- Short chain type dehydrogenase/reductase XH98G2 antibody
- Short-chain type dehydrogenase/reductase XH98G2 antibody
- Type 10 17b HSD antibody
- Type 10 17beta hydroxysteroid dehydrogenase antibody
- Type II HADH antibody
- XH98G2 antibody
see all