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mitochondrial dna depletion syndrome 21 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial dna depletion syndrome 21

MONDO:0976132

Overview

GeneticsGUK1 (chr 1)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GUK1 encodes guanylate kinase 1 (197 aa). Catalyzes the phosphorylation of GMP to GDP. Essential enzyme for recycling GMP and indirectly, cyclic GMP (cGMP). Involved in the cGMP metabolism in photoreceptors. Highest expression in Whole Blood (190.6 TPM) and Artery Aorta (151.5 TPM).

Mitochondrial dna depletion syndrome 21 is associated with mutations in the GUK1 gene on chromosome 1.

The GUK1 protein participates in (d)GDP + ADP (d)GMP + ATP (GUK1), (d)GMP + ATP (d)GDP + ADP (GUK1), and carbovir monophosphate + ATP = carbovir diphosphate + ADP pathways.

GUK1 is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for GUK1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mitochondrial dna depletion syndrome 21 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mitochondrial dna depletion syndrome 21.

78 publications have been identified in PubMed for mitochondrial dna depletion syndrome 21. Research spans Basic Science / Preclinical (36%), Epidemiology / Natural History (15%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Laboratory research	28	36%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621071

Questions for Your Care Team

→Should I pursue genetic testing for GUK1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mitochondrial dna depletion syndrome 21

Overview

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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