QuickView for COL4A6 (gene)

Gene Symbol:

COL4A6 Homo sapiens

Full name:

collagen type IV alpha 6 chain

Synonyms:

CXDELq22.3, DELXq22.3, DFNX6, collagen alpha-6(IV) chain, collagen IV, alpha-6 polypeptide, collagen of basement membrane, alpha-6, collagen, type IV, alpha 6, dJ889N15.4 (Collagen Alpha 6(IV))

Genomic Location:

Chr X: 107285493-107569360

Description:

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions...

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This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  HNF1_01 ,  TTANTCA_UNKNOWN ,  YATTNATC_UNKNOWN ,  ATCMNTCCGY_UNKNOWN ,  PBX1_01 ,  WHN_B ,  COMP1_01 ,  GGGAGGRR_MAZ_Q6 ,  RGAANNTTC_HSF1_01 ,  GTGACGY_E4F1_Q6 ,  GGGCGGR_SP1_Q6 ,  SOX5_01 ,  YCATTAA_UNKNOWN ,  TTGTTT_FOXO4_01 ,  WGGAATGY_TEF1_Q6 ,  AAAYRNCTG_UNKNOWN ,  AACTTT_UNKNOWN ,  TGACATY_UNKNOWN ,  HNF1_Q6

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Cytogenetic Map:

Xq22.3

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