HKDC1

Chr 10AR

hexokinase domain containing 1

Also known as: RP92

This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Retinitis pigmentosa 92MIM #619614
AR
0
Active trials
47
Pubs (1 yr)
P/LP submissions
P/LP missense
0.88
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 2.18
OE 0.65 (0.480.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.14Z-score
OE missense 1.02 (0.951.09)
583 obs / 573.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.65 (0.480.88)
00.351.4
Missense OE?1.02 (0.951.09)
00.61.4
Synonymous OE?0.98
01.21.6
LoF obs/exp: 29 / 44.7Missense obs/exp: 583 / 573.8Syn Z: 0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HKDC1 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →