DST — dystonin

30 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

212PubMed Papers

#1,957 · top 10% of 19K genes

22Diseases

top 4%

0Drugs

197Pathogenic Variants

top 6%

OMIM Disease GeneHighly ConstrainedVariant-RichExperimental GO EvidenceSwiss-Prot Reviewed

nucleusintegrin bindingresponse to woundingmaintenance of cell polarityhereditary sensory and autonomic neuropathy type 6epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiencyepidermolysis bullosa simplexgenetic disorder

AI Summary

I cannot provide an adequate gene function summary for DST (dystonin) based on the provided PubMed abstracts. The three abstracts supplied discuss diabetes management and biomarkers in clinical trials, with no content related to DST, cytoskeletal organization, axonal transport, or the associated diseases (epidermolysis bullosa simplex 3 and hereditary sensory and autonomic neuropathy 6). To generate an evidence-based summary grounded in the provided literature as required, I would need PubMed abstracts that actually address DST's molecular mechanisms, its role in microtubule or hemidesmosome organization, and its involvement in sensory neuron function or skin barrier maintenance. The current set of abstracts is insufficient to support any factual claims about this gene's biology or clinical significance.

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations22

hereditary sensory and autonomic neuropathy type 6Open Targets

0.75Strong

epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiencyOpen Targets

0.75Strong

epidermolysis bullosa simplexOpen Targets

0.66Moderate

genetic disorderOpen Targets

0.54Moderate

KRT14-related epidermolysis bullosa simplexOpen Targets

0.46Moderate

multiple sclerosisOpen Targets

0.39Weak

atrial fibrillationOpen Targets

0.38Weak

cardiomyopathyOpen Targets

0.34Weak

autism spectrum disorderOpen Targets

0.34Weak

Global developmental delayOpen Targets

0.34Weak

HypotoniaOpen Targets

0.34Weak

lethal congenital contracture syndromeOpen Targets

0.34Weak

vascular diseaseOpen Targets

0.34Weak

edemaOpen Targets

0.31Weak

COVID-19Open Targets

0.31Weak

respiratory failureOpen Targets

0.31Weak

fungal infectious diseaseOpen Targets

0.30Weak

alcohol drinkingOpen Targets

0.30Weak

Charcot-Marie-Tooth diseaseOpen Targets

0.29Weak

HypocalcemiaOpen Targets

0.29Weak

Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiencyUniProt

Neuropathy, hereditary sensory and autonomic, 6UniProt

Pathogenic Variants197

NM_001723.7(DST):c.3370C>T (p.Gln1124Ter)Pathogenic

Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|not provided|not specified|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6|Hereditary sensory and autonomic neuropathy type 6

★★☆☆2026→ Residue 1124

NM_001723.7(DST):c.3383del (p.Ala1128fs)Pathogenic

Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6|not provided

★★☆☆2025→ Residue 1128

NM_001723.7(DST):c.4534C>T (p.Arg1512Ter)Pathogenic

Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|DST-related disorder

★★☆☆2025→ Residue 1512

NM_001374736.1(DST):c.22959+1G>ALikely pathogenic

Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|not provided

★★☆☆2025

NM_001374736.1(DST):c.2989C>T (p.Gln997Ter)Pathogenic

Inborn genetic diseases|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6

★★☆☆2024→ Residue 997

NM_001723.7(DST):c.64C>T (p.Arg22Ter)Likely pathogenic

Hereditary sensory and autonomic neuropathy type 6|not provided

★★☆☆2024→ Residue 22

NM_001723.7(DST):c.4993C>T (p.Gln1665Ter)Pathogenic

not provided|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6

★★☆☆2024→ Residue 1665

NM_001374736.1(DST):c.21756del (p.Ala7253fs)Pathogenic

not provided|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6|LETHAL CONGENITAL CONTRACTURE SYNDROME 12

★★☆☆2024→ Residue 7253

NM_001723.7(DST):c.3586dup (p.Tyr1196fs)Pathogenic

DST-related disorder|Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

★★☆☆2024→ Residue 1196

NM_001723.7(DST):c.5484T>A (p.Cys1828Ter)Pathogenic

Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|not provided

★★☆☆2023→ Residue 1828

NM_001723.7(DST):c.5177dup (p.Thr1727fs)Pathogenic

Hereditary sensory and autonomic neuropathy type 6|Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

★★☆☆2022→ Residue 1727

NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter)Pathogenic

Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6|Inborn genetic diseases

★★☆☆2021→ Residue 7329

NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter)Pathogenic

not provided|Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

★★☆☆2021→ Residue 5072

NM_001374736.1(DST):c.5672T>A (p.Leu1891Ter)Likely pathogenic

DST-related disorder

★☆☆☆2026→ Residue 1891

NM_001374736.1(DST):c.9021del (p.Lys3007fs)Likely pathogenic

DST-related disorder

★☆☆☆2026→ Residue 3007

NM_001374736.1(DST):c.3528_3529del (p.Trp1177fs)Pathogenic