Collagen, Type V, Alpha-1

Alternative Names

  • COL5A1
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OMIM Number

120215

NCBI Gene ID

1289

Uniprot ID

P20908

Length

203,055 bases

No. of Exons

67

No. of isoforms

2

Protein Name

Collagen alpha-1(V) chain

Molecular Mass

183560 Da

Amino Acid Count

1838

Genomic Location

chr9:134,641,789-134,844,843

Gene Map Locus
9q34.3

Description

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000093.5:c.2654T>ALebanonchr9:134789162Likely PathogenicEhlers-Danlos Syndrome, classic type, 1 NG_008030.1:g.152357T>A; NM_000093.5:c.2654T>A; NP_000084.3:p.Ile885Asn
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