DTNA gene

dystrobrevin alpha

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.

From NCBI Gene:

  • Left ventricular noncompaction 1

From UniProt:

Left ventricular non-compaction 1 (LVNC1): A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies such as ventricular septal defects, pulmonic stenosis and atrial septal defects. The right ventricle may also be affected. [MIM:604169]

Cytogenetic Location: 18q12.1, which is the long (q) arm of chromosome 18 at position 12.1

Molecular Location: base pairs 34,493,290 to 34,891,844 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q12.1, which is the long (q) arm of chromosome 18 at position 12.1
  • D18S892E
  • DRP3
  • DTN
  • DTN-A
  • LVNC1