DTNA

Chr 18

dystrobrevin alpha

Also known as: D18S892E, DRP3, DTN, DTN-A, LVNC1, MMCKR2

NCBI Gene: 1837 ENSG00000134769 UniProt: Q9Y4J8

The protein is a component of the dystrophin-associated protein complex that localizes to the sarcolemma and may be involved in synapse formation and acetylcholine receptor clustering. Autosomal dominant mutations cause left ventricular noncompaction with or without congenital heart defects, and myopathy with myalgia, elevated creatine kinase, and episodic rhabdomyolysis. The gene is moderately constrained against loss-of-function variants (LOEUF 0.368).

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeft ventricular non-compaction 1

UniProtMyopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ADDisputedevidence questions this relationship2 gene-disease associations curated in total

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.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.37

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — DTNA