Collagen, Type IV, Alpha-5

Alternative Names

  • COL4A5
  • Collagen of Basement Membrane, Alpha-5 Chain

Associated Diseases

Alport Syndrome, X-Linked
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OMIM Number

303630

NCBI Gene ID

1287

Uniprot ID

P29400

Length

257,810 bases

No. of Exons

58

No. of isoforms

2

Protein Name

Collagen alpha-5(IV) chain

Molecular Mass

161044 Da

Amino Acid Count

1685

Genomic Location

chrX:108,439,736-108,697,545

Gene Map Locus
Xq22.3

Description

The COL4A5 gene is located on the X chromosome. This gene codes for Type IV collagen, which is one of the components of the basement membrane. The glomerular basement membrane of the kidneys is responsible for filtering out fluid and retaining blood and proteins. Defects in the membrane structure lead to abnormalities in the function of this filtering process, leading to proteinuria and hematuria. Defects in collagen also lead to abnormalities in the shape of the lens and structure of the inner ear, leading to ocular and hearing abnormalities.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_033380.2:c.4214dupLebanonChrX:108681886PathogenicAlport Syndrome, X-LinkedNG_011977.1:g.246963dup ; NM_033380.2:c.4214dup; NP_203699.1:p.Gly1406Argfs10488640924713
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