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Open Access Articles- Top Results for COL4A5

COL4A5

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Identifiers
SymbolsCOL4A5 ; ASLN; ATS; CA54
External IDsOMIM303630 MGI88456 HomoloGene133559 GeneCards: COL4A5 Gene
Orthologs
SpeciesHumanMouse
Entrez128712830
EnsemblENSG00000188153ENSMUSG00000031274
UniProtP29400Q63ZW6
RefSeq (mRNA)NM_000495NM_001163155
RefSeq (protein)NP_000486NP_001156627
Location (UCSC)Chr X:
107.68 – 107.94 Mb
Chr X:
141.48 – 141.69 Mb
PubMed search[1][2]

Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Three transcript variants have been identified for this gene.[1]

Disease Databases

ARUP COL4A5 gene variant database

LOVD Alport gene variant databases (COL4A5, COL4A3, COL4A4)

See also

References

Further reading

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