HSD17B3 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- HSD17B3 (HGNC:5212) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- hydroxysteroid 17-beta dehydrogenase 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SDR12C2
- %HI
- 73.59(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.09(Read more about gnomAD LOEUF score)
- Cytoband
- 9q22.32
- Genomic Coordinates
-
GRCh37/hg19: chr9:98997588-99064458 NCBI Ensembl UCSC GRCh38/hg38: chr9:96235306-96302176 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000197.2 ENST00000375263.8 (Read more about MANE Select)
- Function
- Catalyzes the conversion of 17-oxosteroids to 17beta- hydroxysteroids (PubMed:8075637, PubMed:16216911, PubMed:27927697, PubMed:26545797). Favors the reduction of androstenedione to testosterone (PubMed:16216911, PubMed:27927697, PubMed:26545797). Testosterone is the key androgen driving male development and function (PubMed:8075637). Uses NADPH while the two other EDH17B enzymes use NADH (PubMed:26545797, PubMed:8075637, PubMed:16216911). Androgens such as epiandrosterone, dehydroepiandrosteron... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-18712
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)