Immunogen
Synthesized peptide derived from human DTNA AA range: 131-181
Specificity
This antibody detects endogenous levels of DTNA at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1：500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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],
Function
alternative products:Additional isoforms seem to exist,disease:Defects in DTNA are a cause of non-compaction of left ventricular myocardium with congenital heart defects (LVNCCHD) [MIM:606617]; also known as non-isolated left ventricular non-compaction. LVNCCHD is associated with congenital heart anomalies such as ventricular septal defects, pulmonic stenosis, and atrial septal defects.,disease:Defects in DTNA are the cause of non-compaction of left ventricular myocardium isolated autosomal dominant type 1 (LVNC1) [MIM:604169]. Left ventricular non-compaction (LVNC) is due to an arrest of myocardial morphogenesis. The disorder is characterized by a hypertrophic left ventricular with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, the right ventricle is also affected.,domain:The coiled coil domain mediates the inter
Human protein sequence Database
Q9Y4J8
Mouse protein sequence database
Q9D2N4
Rat protein sequence database
Cellular localization
Cytoplasm. Cell junction, synapse. Cell membrane . In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane. .
Tissue expression
Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle.
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