Collagen, Type VIII, Alpha-1

Alternative Names

  • COL8A1

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

120251

NCBI Gene ID

1295

Uniprot ID

P27658

Length

160,624 bases

No. of Exons

5

No. of isoforms

1

Protein Name

Collagen alpha-1(VIII) chain

Molecular Mass

73364 Da

Amino Acid Count

744

Genomic Location

chr3:99,638,593-99,799,216

Gene Map Locus
3q12.1

Description

This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001850.4:c.-4+13317C=LebanonNC_000003.12:g.99758338C=AssociationType 2 Diabetes MellitusNM_001850.4:c.-4+13317C=; NP_001841.2:p.?792837
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