Collagen, type IV, alpha 5

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COL4A5
Identifiers
AliasesCOL4A5, ASLN, ATS, CA54, collagen type IV alpha 5, collagen type IV alpha 5 chain
External IDsMGI: 88456 HomoloGene: 133559 GeneCards: COL4A5
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for COL4A5
Genomic location for COL4A5
BandXq22.3Start108,439,844 bp[1]
End108,697,545 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000495
NM_033380
NM_033381

NM_001163155
NM_007736

RefSeq (protein)

NP_000486
NP_203699

n/a

Location (UCSC)Chr X: 108.44 – 108.7 MbChr X: 141.48 – 141.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

Disease Databases[edit]

ARUP COL4A5 gene variant database

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

See also[edit]

References[edit]

Further reading[edit]