Go Annotations as Summary Text (Tabular View) (GO Graph)

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Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables actin filament binding activity; dystroglycan binding activity; and identical protein binding activity. Involved in several processes, including cell-cell junction organization; cytoskeleton organization; and striated muscle cell development. Located in brush border; contractile muscle fiber; and podosome. Is active in several cellular components, including Z disc; hemidesmosome; and sarcolemma. Is expressed in eye; facial prominence; limb digit; skin; and spinal cord dorsal horn. Used to study epidermolysis bullosa simplex Ogna type and epidermolysis bullosa simplex with muscular dystrophy. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy. Orthologous to human PLEC (plectin).

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Gene Ontology Evidence Code Abbreviations:

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