Gene: DTNA

Alternate names for this Gene: D18S892E|DRP3|DTN|DTN-A|LVNC1

Gene Summary: 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q12.1

Description of this Gene: dystrobrevin alpha

Type of Gene: protein-coding

rs104894654 in DTNA gene and NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

rs1480432 in DTNA gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.