Dsp - desmoplakin Gene

种属: Mus musculus

同用名: DP; rul; 2300002E22Rik; 5730453H04Rik

关于 Dsp

功能概要

Predicted to enable protein kinase C binding activity; scaffold protein binding activity; and structural molecule activity. Involved in several processes, including desmosome organization; intermediate filament organization; and ventricular compact myocardium morphogenesis. Acts upstream of or within several processes, including adherens junction organization; intermediate filament Cytoskeleton organization; and skin development. Located in basolateral plasma membrane; desmosome; and intercalated disc. Colocalizes with intermediate filament. Is expressed in several structures, including alimentary system; extraembryonic component; genitourinary system; heart; and sensory organ. Used to study Carvajal syndrome and arrhythmogenic right ventricular dysplasia 8. Human ortholog(s) of this gene implicated in Carvajal syndrome; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 8; and dilated cardiomyopathy. Orthologous to human DSP (desmoplakin). [provided by Alliance of Genome Resources, Apr 2022]