Automated description from the Alliance of Genome Resources (Release 3.1.1)
Exhibits identical protein binding activity. Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Localizes to basement membrane. Is expressed in dermis; glomerular basement membrane of mature renal corpuscle; limb skin; skin; and surface ectoderm. Used to study recessive dystrophic epidermolysis bullosa. Human ortholog(s) of this gene implicated in autosomal dominant dystrophic epidermolysis bullosa; epidermolysis bullosa dystrophica; epidermolysis bullosa with congenital localized absence of skin and deformity of nails; nonsyndromic congenital nail disorder 8; and transient bullous dermolysis of the newborn. Orthologous to human COL7A1 (collagen type VII alpha 1 chain).