Recombinant Human Collagen alpha-4(IV) chain (COL4A4)

1. COL4A mutations comprise a frequent cause of Familial microscopic hematuria. PMID: 28632965
2. Three collagen type IV alpha 4 chain (COL4A4) heterozygous mutations that lead to 3 different collagen type IV kidney disease phenotypes, manifesting as Thin basement membrane nephropathy (TBMN), autosomal dominant Alport syndrome (ADAS), and focal segmental glomerulosclerosis (FSGS). PMID: 29669314
3. This finding broadens mutation spectrum of the COL4A4 gene and extends the phenotypic spectrum of collagen IV nephropathies. PMID: 27469977
4. A novel frameshift mutation, c.3213delA (p.Gly1072GlufsFNx0169) in the COL4A4 gene, was identified in the Chinese pedigree with autosomal dominant Alport syndrome PMID: 27934798
5. we describe a novel splicing mutation in COL4A4 that results in TBMN. This analysis increases our understanding of TBMN phenotype-genotype correlations, which should facilitate more accurate diagnosis and prenatal diagnosis of TBMN. PMID: 26833262
6. New COL4A4 mutations among Portuguese patients with collagen IV-related nephropathies were identified in 8 unrelated families. PMID: 25307543
7. Tetrastatin, the NC1 alpha 4 collagen IV domain level increases in pulmonary tumor extracts. PMID: 25935259
8. COL4A4 rs2229813 AA and GA+AA genotypes as well as the A allele play roles as risk factors for developing Keratoconus in our population. PMID: 25651396
9. COL4A4 missense variants [c.G2636A (p.Gly879Glu) and c.C4715T (p.Pro1572Leu)] in family 1. COL4A4 c.G2636A, a novel variant, co-segregated with renal disease among maternal relatives. PMID: 25381091
10. 9 mutation in COL4A4 associated with autosomal dominant Alport syndrome. PMID: 24033287
11. COL4A4 related nephropathy caused by novel mutation in a large consanguineous Saudi family. PMID: 24398087
12. Our findings suggest that variants in the COL4A4 gene may contribute to the development of lattice degeneration of the retina. PMID: 22723992
13. The absence of pathogenic mutations in COL4A4 gene in our large number of unrelated keratoconus patients indicates that other genetic factors are involved in the development of this disorder PMID: 20664914
14. COL4A4 mutation: from familial hematuria to autosomal-dominant or recessive Alport syndrome. PMID: 12028435
15. Six of seven (86%) individuals with autosomal recessive Alport syndrome who had 3 novel COL4A4 mutations in the compound heterozygous or homozygous forms developed renal failure in adulthood, as well as hearing loss and ocular abnormalities. PMID: 12325029
16. Two stop codons (R1377X and 2788/91delG) and a glycine substitution (G960R) resulted in hematuria. S969X mutation. PMID: 12631110
17. COL4A4 gene is associted with Alport's syndrome in which males and females are severely affected. PMID: 12768082
18. Mutations in COL4A3 and COL4A4 genes produce alteration to glomerular basement membrane(GBM). Phenotype may range from thinned GBM ro GBM thickening, lamellation and splitting. Review. PMID: 15280517
19. Persistent familial hematuria in children often occurs at the COLA4A locus for thin membrane nephropathy. PMID: 16235097
20. The molecular analysis demonstrated that the probands were genetic compounds for two different mutations in the COL4A4 gene pinpointing to the correct diagnosis of autosomal recessive ATS. PMID: 16338941
21. A clinical evaluation of probands and their relatives of the five families carrying mutations in either the COL4A3 or the COL4A4 gene was carried out to underline the natural history of the autosomal recessive ATS. PMID: 16970251
22. 16 novel mutations identified in COL4A3, COL4A4 & COL4A5 genes in Slovenian families with Alport syndrome & benign familial hematuria (BFH); 4 heterozygous mutations in COL4A4 (2 splice site, 1 in-frame deletion & 1 missense) identified in BFH PMID: 17396119
23. On the basis of linked-function analysis, we demonstrated that collagen binding domain of MMP2 tuned the cleavage of collagen IV by MMP9, presumably by inducing a ligand-linked structural change on the type IV collagen. PMID: 19109975
24. It is difficult to make a differential diagnosis with a benign familial haematuria due to heterozygous mutations of COL4A4 and COL4A3, especially in young patients, and with a X-linked form of Alport syndrome in families where only females are affected. PMID: 19129241
25. Novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy. PMID: 19675380

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HGNC: 2206

OMIM: 120131

KEGG: hsa:1286

STRING: 9606.ENSP00000379866

UniGene: Hs.591645