Type | Description |
---|---|
Definition | hydroxysteroid 17-beta dehydrogenase 10 |
Date | Results | Publications |
---|---|---|
2021-03-27 14:44:00 | Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses. | 32703935 |
2020-06-20 10:47:00 | Results identified a single missense variant, c.364C>G, p.Leu122Val, in patients with HSD10 mitochondrial disease (HSD10MD). The phenotype associated with it currently appears to be attenuated and nonprogressive. This report widens the spectrum of phenotypic severity of HSD10MD and contributes to genotype-phenotype correlation. At present, p.Leu122Val is considered a "variant of uncertain significance." | 31654490 |
2019-02-16 10:09:00 | This study proposes low-resolution models of the MRPP1-MRPP2 and MRPP1-MRPP2-MRPP3 complexes that suggest the overall architecture, stoichiometry, and orientation of subunits and tRNA substrates. | 29880640 |
2019-02-09 11:42:00 | 17beta-Hydroxysteroid dehydrogenase type 10 is a multifunctional, homotetrameric, mitochondrial protein encoded by the HSD17B10 gene at Xp 11.2. This protein, 17beta-HSD10, is overexpressed in brain cells of Alzheimer's disease (AD) patients. Analysis of the impact of 17beta-HSD10 and its inhibitor, amyloid-beta peptide (Abeta), on the metabolism of neuroactive steroids offers a new approach to AD pathogenesis. | 29480196 |
2018-12-22 12:23:00 | Authors report two patients with novel missense mutations in the HSD17B10 gene (c.34G>C and c.526G>A), resulting in the p.V12L and p.V176M substitutions. Val12 and Val176 are highly conserved residues located at different regions of the MRPP2 structure. | 28888424 |
Type | IDs |
---|---|
Synonymous | 17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, HSD10MD, MHBD, MRPP2, MRX17, MRX31, MRXS10, SCHAD, SDR5C1 |
Gene |
UniProtKB-ID:
HCD2_HUMAN,
A0A0S2Z410_HUMAN
UniprotKB:
Q99714,
A0A0S2Z410
UniParc:
UPI0000036BD7,
UPI0000073799
EMBL:
U96132,
U73514,
KU178107,
BC008708,
CH471154,
BC000372,
AY092415,
AF037438,
GQ891484,
Z97054,
AF069134,
AF035555,
CR456723
Ensembl:
ENSG00000072506
KO:
hsa:3028
|
Nucleutide sequences |
EMBL-CDS:
EAW93158.1,
AAH08708.1,
AAH00372.1,
CAG33004.1,
CAI42653.1,
CAI42652.1,
AAC39900.1,
AAC16419.1,
AAC51812.1,
EAW93157.1,
AAC15902.1,
AAB68958.1,
AAM18189.1,
ALQ33565.1,
ADO22346.1
Ensembl_TRS:
ENST00000168216,
ENST00000375304
|
Protein sequencees |
Ensembl_PRO:
ENSP00000168216,
ENSP00000364453
RefSeq:
NP_001032900.1,
NP_004484.1
|
Others |
UniRef100:
UniRef100_Q99714
UniRef90:
UniRef90_Q99714
UniRef50:
UniRef50_Q99714
UniGene:
Hs.171280
CCDS:
CCDS14354.1,
CCDS35300.1
|
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Refseq |
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