COL4A4

COL4A4

References in periodicals archive ?
It is encoded by the COL4A4 gene, and mutations of this gene are known to be associated with thin basement membrane nephropathy (TBMN).
For the analysis of the COL4A4 gene, all the exons including splicing sites were amplified by PCR and screened by direct sequencing analysis.
Results: Eight novel COL4A4 sequence variants were found in these patients.
Interpretation & conclusion: The frequency of COL4A4 mutations in Korean patients with TBMN is low and the other cases may have mutations in other genes like COL4A3.
Heterozygous mutations have been shown to occur in COL4A3 and COL4A4, which are important parts of the framework for the basement membrane (8-15).
Lmx1b regulates the expression of COL4A3 and COL4A4 genes, as well as NPHS2, the gene encoding for podocin, and its mutated form is associated with abnormal deposition of collagen in the GBM, impaired podocyte differentiation, and development of mesangial and segmental sclerosis.
Recently, linkage and mutation analysis in a kindred with TGBM nephropathy has demonstrated a missense mutation in the COL4A4 gene that codes for the [alpha]-4 chain of type IV collagen, resulting in a glycine to glutamic acid substitution.
Still, there are uncommon forms of Alport syndrome linked to mutations in the COL4A4 gene encoding [[alpha].
COL4A4 mutation in thin glomerular basement membrane disease previously described in Alport syndrome.
Autosomal-recessive patients have mutation(s) in either COL4A3 or COL4A4 genes situated on chromosome 2.
Alport Syndrome is a genetic condition caused by mutations in the COL4A3, COL4A4 or COL4A5 genes which impacts the body's ability to create a specific type of collagen highly expressed in the kidney and essential to normal kidney structure.
Alport Syndrome is a genetic condition caused by mutations in the COL4A3, COL4A4, and COL4A5 genes that is characterized by kidney disease, hearing loss, and eye abnormalities.