DTNA
DTNA (Dystrobrevin Alpha) is a protein that in humans is encoded by the DTNA gene. It is a member of the dystrophin-associated protein complex (DAPC), which connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.
Function[edit | edit source]
DTNA is a component of the DAPC, which is thought to protect muscle fibers from contraction-induced damage. It also plays an important role in synapse formation and function. Mutations in this gene are associated with left ventricular noncompaction (LVNC).
Structure[edit | edit source]
The DTNA protein is a 770 amino acid protein with a predicted molecular weight of approximately 87 kDa. It contains a ZZ-type zinc finger domain, a dystrobrevin N-terminal domain, and two coiled-coil domains.
Clinical significance[edit | edit source]
Mutations in the DTNA gene have been associated with dilated cardiomyopathy (DCM), a condition characterized by an enlarged and weakened heart muscle. This can lead to heart failure and other complications.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- DTNA at the US National Library of Medicine Medical Subject Headings (MeSH)
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Contributors: Prab R. Tumpati, MD
