Gene: LOC105378347

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: COL13A1

Alternate names for this Gene: CMS19|COLXIIIA1

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: collagen type XIII alpha 1 chain

Type of Gene: protein-coding

rs17497526 in LOC105378347;COL13A1 gene and Parkinson Disease PMID 23793441 2013 Parkinson disease loci in the mid-western Amish.