H6PD
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
H6PD (HGNC:4795) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GDH
Alias symbols
H6PDH
%HI
46.01(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.01(Read more about gnomAD LOEUF score)
Cytoband
1p36.22
Genomic Coordinates
GRCh37/hg19: chr1:9294833-9331396 NCBI Ensembl UCSC
GRCh38/hg38: chr1:9234774-9271337 NCBI Ensembl UCSC
MANE Select Transcript
NM_004285.4 ENST00000377403.7 (Read more about MANE Select)
Function
Bifunctional enzyme localized in the lumen of the endoplasmic reticulum that catalyzes the first two steps of the oxidative branch of the pentose phosphate pathway/shunt, an alternative to glycolysis and a major source of reducing power and metabolic intermediates for biosynthetic processes (By similarity). Has a hexose-6-phosphate dehydrogenase activity, with broad substrate specificity compared to glucose-6-phosphate 1-dehydrogenase/G6PD, and catalyzes the first step of the pentose phosphate p... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19423
ClinGen Curation ID:
CCID:007270
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:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • cortisone reductase deficiency 1 Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)