HSD17B10

  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
HSD17B10 (HGNC:4800) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
hydroxysteroid 17-beta dehydrogenase 10
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
HADH2, MRXS10
Alias symbols
ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR
%HI
21.63(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.94(Read more about gnomAD pLI score)
LOEUF
0.34(Read more about gnomAD LOEUF score)
Cytoband
Xp11.22
Genomic Coordinates
GRCh37/hg19: chrX:53458206-53461323 NCBI Ensembl UCSC
GRCh38/hg38: chrX:53431258-53434376 NCBI Ensembl UCSC
MANE Select Transcript
NM_004493.3 ENST00000168216.11 (Read more about MANE Select)
Function
Mitochondrial dehydrogenase involved in pathways of fatty acid, branched-chain amino acid and steroid metabolism (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:20077426, PubMed:18996107, PubMed:19706438, PubMed:25925575, PubMed:26950678, PubMed:28888424). Acts as (S)-3-hydroxyacyl-CoA dehydrogenase in mitochondrial fatty acid beta-oxidation, a major degradation pathway of fatty acids. Catalyzes the third step in the beta-oxidation cycle, namely the reversible conversion of (S)-3-hydro... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4740
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Several boys have been described with a neurodegenerative symptoms ascribed to MHBD deficiency (OMIM: 300438, 300220) who have missense mutations in HSD17B10. Some females with mutations are normal and others have milder symptoms. All mutations described have been missense, except for one which is a silent mutation that causes aberrant splicing in a percentage of transcripts. Animal models suggest that complete loss of this gene is embryonic lethal in males. The HSD10 protein has multiple enzymatic functions and is critical for mitochondrial function. It was originally thought that clinical symptoms were due to loss of enzyme activity. However, there is no correlation between disease severity and enzyme activity. There have been no loss of function mutations described and the mechanism of disease is not understood. See Zschocke et al (2012, PMID: 22127393) for a recent literature review and Rauschenberger et al (2010, PMID: 20077426) for recent work on possible disease mechanisms related to enzyme activity. Previous cases with missense mutations are reviewed by Zschocke and include PMIDs: 17236142, 12696021, 19706438, 17618155, 22132097, 20664630.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There have been no focal duplications of HSD17B10. One group reported 6 families with X-linked mental retardation with a duplication that included HSD17B10 and other genes (Froyen, 2008, PMID: 18252223), OMIM: 300705. However, additional analysis of 6 more families with overlapping duplications showed that the minimally overlapping region for all 12 families did not include HSD17B10 but rather was specific to HUWE1 (Froyen, 2012, PMID:22840365).
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)