COL4A3 wt Allele

Human COL4A3 wild-type allele is located within 2q36-q37 and is approximately 150 kb in length. This allele, which encodes collagen alpha-3 (IV) chain protein, is involved in the maintenance of the structure of the basement membrane. Mutation of the gene is linked to an autosomal recessive form of Alport syndrome. (NCI Thesaurus)

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COL4A3 Gene

This gene plays a role in the compositional and structural regulation of basement membranes.

COL2A1 wt Allele

Human COL2A1 wild-type allele is located within 12q13.11-q13.2 and is approximately 32 kb in length. This allele, which encodes collagen alpha-1(II) chain…

COL2A1 Gene

This gene plays a role in both skeletal development and cartilage structure.

COL1A2/PLAG1 Fusion Gene

A fusion gene that results from a chromosomal translocation t(7;8)(p22;q13) which fuses the 5' promoter region of the COL1A2 gene upstream of…

COL1A2 wt Allele

Human COL1A2 wild-type allele is located in the vicinity of 7q22.1 and is approximately 37 kb in length. This allele, which encodes…

COL1A2 Gene

This gene plays a role in the compositional regulation of several connective tissues.