HSD17B4
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
HSD17B4 (HGNC:5213) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
hydroxysteroid 17-beta dehydrogenase 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
MFE-2, DBP, SDR8C1
%HI
44.64(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.86(Read more about gnomAD LOEUF score)
Cytoband
5q23.1
Genomic Coordinates
GRCh37/hg19: chr5:118788192-118878027 NCBI Ensembl UCSC
GRCh38/hg38: chr5:119452497-119542332 NCBI Ensembl UCSC
MANE Select Transcript
NM_000414.4 ENST00000510025.7 (Read more about MANE Select)
Function
Bifunctional enzyme acting on the peroxisomal fatty acid beta-oxidation pathway. Catalyzes two of the four reactions in fatty acid degradation: hydration of 2-enoyl-CoA (trans-2-enoyl-CoA) to produce (3R)-3-hydroxyacyl-CoA, and dehydrogenation of (3R)-3- hydroxyacyl-CoA to produce 3-ketoacyl-CoA (3-oxoacyl-CoA), which is further metabolized by SCPx. Can use straight-chain and branched-chain fatty acids, as well as bile acid intermediates as substrates. {ECO:0000269|PubMed:10671535, ECO:0000269|P... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7014
ClinGen Curation ID:
CCID:007303
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/06/2018

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variation in HSD17B4 has been associated with autosomal recessive Perrault syndrome and autosomal recessive DBP-deficiency; furthermore the overall evidence supporting the association between HSD17B4 and Perrault syndrome (lumped together with DBP-deficiency) has been assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation. Loss of function variants have been reported in the HSD17B4 gene, but have been reported in compound heterozygosity (Pierce et al. 2010, PMID 20673864; Lieber et al. 2014, PMID 24602372).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)