HK1

Chr 10

hexokinase 1

Also known as: CNSHA5, HK, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR

NCBI Gene: 3098ENSG00000156515UniProt: P19367

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAnemia, congenital, non-spherocytic hemolytic, 5
UniProtNeuropathy, hereditary motor and sensory, Russe type
UniProtRetinitis pigmentosa 79
UniProtNeurodevelopmental disorder with visual defects and brain anomalies

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
188
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.33
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
📖
GeneReview available — HK1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.33LOEUF
pLI 0.915
Z-score 4.96
OE 0.19 (0.11–0.33)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.23Z-score
OE missense 0.61 (0.56–0.67)
341 obs / 555.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.19 (0.11–0.33)
0≤0.351.4
Missense OE?0.61 (0.56–0.67)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 8 / 43.2Missense obs/exp: 341 / 555.3Syn Z: 0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HK1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients