Aliases for COL13A1 Gene
External Ids for COL13A1 Gene
Previous GeneCards Identifiers for COL13A1 Gene
This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL13A1 Gene
COL13A1 (Collagen Type XIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL13A1 include Col13a1-Related Congenital Myasthenic Syndrome and Presynaptic Congenital Myasthenic Syndromes. Among its related pathways are Collagen biosynthesis and modifying enzymes and Phospholipase-C Pathway. GO annotations related to this gene include heparin binding. An important paralog of this gene is COL25A1.
UniProtKB/Swiss-Prot for COL13A1 Gene
Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering (PubMed:26626625).