Genopathy
Gene-Disorder Association · Article
Gene
STXBP2
Syntaxin Binding Protein 2
Disorder
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
First reported 1979
Supporting publications 2
Key publication · disorder Nuclear mutants of Neurospora crassa temperature-sensitive for the synthesis of cytochrome aa3. Mitochondrial protein synthesis and analysis of the polypeptide composition of cytochrome c oxidase.European journal of biochemistry · 1979
Manually curated
Association Review

In brief

The association between STXBP2 (Syntaxin Binding Protein 2) and Mitochondrial Complex Iv Deficiency, Nuclear Type 12 is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 21
Symptoms 53
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
STXBP2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Mitochondrial Complex Iv Deficiency, Nuclear Type 12

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

30 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

21 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

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