COL4A4 gene基因表达质粒敲除编辑载体ATS2; BFH; CA44 BioVector NTCC质粒载体菌种细胞基因保藏中心

COL4A4 gene基因表达质粒敲除编辑载体ATS2; BFH; CA44

Human collagen, type IV, alpha 4 (COL4A4)
Synonyms ATS2; BFH; CA44

RefSeq NM_000092.5
RefSeq Size 7843 bp
RefSeq ORF 5073 bp
Locus ID 1286
Protein Families Druggable Genome
Protein Pathways ECM-receptor interaction, Focal adhesion, Pathways in cancer, Small cell lung cancer
MW 164.04 kDa
Gene Summary This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset 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 so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR

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