Aliases for COL11A1 Gene
External Ids for COL11A1 Gene
Previous HGNC Symbols for COL11A1 Gene
Previous GeneCards Identifiers for COL11A1 Gene
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
GeneCards Summary for COL11A1 Gene
COL11A1 (Collagen Type XI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL11A1 include Stickler Syndrome, Type Ii and Marshall Syndrome. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and extracellular matrix binding. An important paralog of this gene is COL5A1.
UniProtKB/Swiss-Prot Summary for COL11A1 Gene
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.