collagen 6 alpha-5; collagen 29 alpha-1; von Willebrand factor A domain-containing protein 4 (COL29A1, COL6A5, VWA4)

Function

• collagen 6 acts as a cell-binding protein

Structure

• belongs to the type 6 collagen family
• contains 10 VWFA domains

Compartment

• secreted, extracellular space, extracellular matrix (putative)
• deposed in the extracellular matrix of skeletal muscle (putative)

Alternative splicing

named isoforms=2

Expression

• expressed in skin, followed by lung, small intestine, colon & testis
• in skin, expressed in the epidermis with strongest staining in suprabasal viable layers
• in ATOD patients, it is absent in the most differentiated upper spinous & granular layers (at protein level)

Pathology

• genetic variation of COL29A1 may be associated with susceptibility to atopic dermatitis

More general terms

• collagen subunit
• glycoprotein
• secreted protein

Component of

• collagen type-6

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=256076
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:256076
• OMIM: https://mirror.omim.org/entry/611916
• UniProt: http://www.uniprot.org/uniprot/A8TX70.html