| Gene Symbol |
HSD17B10
|
| Entrez Gene |
3028
|
| Alt Symbol |
17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, MHBD, MRPP2, MRX17, MRX31, MRXS10, SCHAD, SDR5C1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
hydroxysteroid (17-beta) dehydrogenase 10
|
| Other Description |
3-hydroxy-2-methylbutyryl-CoA dehydrogenase|3-hydroxyacyl-CoA dehydrogenase type-2|AB-binding alcohol dehydrogenase|amyloid-beta peptide binding alcohol dehydrogenase|endoplasmic reticulum-associated amyloid beta-peptide-binding protein|mitochondrial RNase P subunit 2|mitochondrial ribonuclease P protein 2|short chain L-3-hydroxyacyl-CoA dehydrogenase type 2|short chain dehydrogenase/reductase family 5C member 1|short chain dehydrogenase/reductase family 5C, member 1|short chain type dehydrogenase/reductase XH98G2
|
| Swissprots |
Q8TCV9 Q5H927 Q6IBS9 Q99714 Q96HD5
|
| Accessions |
AAC16419 ABC70292 CAI42651 CAI42652 CAI42653 EAW93157 EAW93158 EAW93159 Q99714 AF035555 AAC15902 AF069134 AAC39900 AU132847 AY092415 AAM18189 BC000372 AAH00372 BC000829 BC008708 AAH08708 CR456723 CAG33004 JF432473 ADZ15690 U73514 AAB68958 U96132 AAC51812 NM_001037811 NP_001032900 NM_004493 NP_004484
|
| Function |
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. Catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone. Catalyzes the third step in the beta-oxidation of fatty acids. Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids. Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD). {ECO:0000269|PubMed:12917011, ECO:0000269|PubMed:18984158, ECO:0000269|PubMed:9338779}.
|
| Subcellular Location |
Mitochondrion {ECO:0000269|PubMed:12917011, ECO:0000269|PubMed:18984158}.
|
| Tissue Specificity |
Ubiquitously expressed in normal tissues but is overexpressed in neurons affected in AD. {ECO:0000269|PubMed:9338779}.
|
| Top Pathways |
Alzheimer's disease, Valine, leucine and isoleucine degradation
|