COL13A1

COL13A1 (Collagen Type XIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL13A1 include Myasthenic Syndrome, Congenital, 19 and Postsynaptic Congenital Myasthenic Syndromes. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include heparin binding. An important paralog of this gene is COL23A1.

Full Name

Collagen Type XIII Alpha 1 Chain

Function

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).

Biological Process

Cell-cell adhesion Source: UniProtKB
Cell differentiation Source: UniProtKB-KW
Cell-matrix adhesion Source: UniProtKB
Collagen catabolic process Source: Reactome
Collagen fibril organization Source: GO_Central
Endochondral ossification Source: UniProtKB
Extracellular matrix organization Source: GO_Central
Morphogenesis of a branching structure Source: UniProtKB
Notochord development Source: GO_Central
Skeletal system development Source: GO_Central

Cellular Location

Cell membrane; Postsynaptic cell membrane

Involvement in disease

Myasthenic syndrome, congenital, 19 (CMS19):
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort.

Topology

Cytoplasmic: 1-44
Helical: 45-61
Extracellular: 62-717