Aliases for COL11A1 Gene
External Ids for COL11A1 Gene
Previous Symbols 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) is a Protein Coding gene. Diseases associated with COL11A1 include marshall syndrome and fibrochondrogenesis. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix binding. An important paralog of this gene is COL3A1.
UniProtKB/Swiss-Prot for COL11A1 Gene
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils