| Type | Description |
|---|---|
| Definition | hydroxysteroid 17-beta dehydrogenase 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-04 10:44:00 | Establishment of HEK293 cells expressing various missense mutations in the HSD17B3 gene associated with 46,XY DSD revealed that this system is effective to evaluate the enzymatic activities of mutant proteins. | 31614207 |
| 2018-04-28 10:44:00 | mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development | 28774765 |
| 2018-01-20 10:27:00 | The 17beta-HSD3 G289S substitution, previously reported in other patients with 46,XY disorders of sex development, is a polymorphism that does not cause the disorder. | 28859874 |
| 2017-11-25 14:05:00 | The study shows that 17-beta-HSD-3 deficiency is not an uncommon disorder among Egyptian DSD cases. It was evidenced that the mutational profile of the disease is rather heterogeneous, relatively different from those reported in other populations, and has a high degree of novel genetic defects. | 27073926 |
| 2017-06-24 10:22:00 | analysis of Tunisian patients with mutations in the gene encoding 17beta-hydroxysteroid dehydrogenase type 3 and a founder effect | 26956191 |
| Type | IDs |
|---|---|
| Synonymous | EDH17B3, SDR12C2 |
| Gene |
UniProtKB-ID:
DHB3_HUMAN,
Q6FH62_HUMAN
UniprotKB:
P37058,
Q6FH62
UniParc:
UPI0000453966,
UPI0000001643
EMBL:
BC034281,
CH471174,
KU178130,
CR541894,
AL160269,
BT019371,
AY341031,
U05659
Ensembl:
ENSG00000130948
KO:
hsa:3293
|
| Nucleutide sequences |
EMBL-CDS:
AAP88937.1,
AAV38178.1,
AAC50066.1,
AAH34281.1,
EAW92645.1,
CAG46692.1,
ALQ33588.1
Gene_ORFName:
hCG_33005
Ensembl_TRS:
ENST00000375262,
ENST00000375263
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000364411,
ENSP00000364412
RefSeq:
XP_016870163.1,
XP_016870164.1,
XP_016870161.1,
XP_024303297.1,
XP_011516921.1,
XP_016870160.1,
XP_016870166.1,
NP_000188.1,
XP_011516920.1,
XP_016870162.1
|
| Others |
UniRef100:
UniRef100_P37058
UniRef90:
UniRef90_P37058
UniRef50:
UniRef50_P37058
UniGene:
Hs.477
CCDS:
CCDS6716.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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