COL13A1 (COL13A1 stands for: Collagen Type XIII Alpha 1 Chain) is a protein coding gene located on chromosome 10q22.1.
COL13A1 gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
COL13A1 encodes the alpha chain of one of the non-fibrillar collagens. The function of this gene product is not known, but it has been detected in small amounts in all connective tissue-producing cells, so it may serve a general function in connective tissue.
Unlike most collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain. The protein has been localized to the plasma membrane. Transcripts for this gene undergo a complex and extensive splicing process involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer consists of one or more isomers of the alpha chain.
The encoded collagen XIII is involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. It may be involved in the muscle fiber-basement membrane junction. Furthermore, it likely plays a role in endochondral ossification of bone and branching morphogenesis of the lung. Collagen XIII is capable of binding heparin. May play a role at neuromuscular junctions in the bundling of acetylcholine receptors.
Clinical pictureThis section has been translated automatically.
Diseases associated with COL13A1 include:
- Congenital myasthenic syndrome 19 (CMS19), an autosomal recessive inherited disorder caused by a defect in the neuromuscular junction that results in generalized muscle weakness, exercise intolerance, and respiratory failure. Patients show hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of weakness and the course of the disease vary (Logan et al., 2015).
LiteratureThis section has been translated automatically.
- Latvanlehto A et al. (2010) Muscle-derived collagen XIII regulates maturation of the skeletal neuromuscular junction. J Neurosci 30: 12230-12241.
- Logan CV et al (2015) Congenital myasthenic syndrome type 19 is caused by mutations in COL13A1, encoding the atypical non-fibrillar collagen type XIII alpha-1 chain. Am J Hum Genet 97: 878-885.
- Maselli RA et al (2011) Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. Clin Genet 80:444-451.
- Rodriguez Cruz PM et al (2019) The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain 142: 1547-1560.