Collagen, Type IV, alpha 4 (Col4a4) Kits ELISA

Col4a4 encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. De plus, nous expédions Col4a4 Anticorps (20) et Col4a4 Protéines (3) et beaucoup plus de produits pour cette protéine.

list all ELISA KIts Gène GeneID UniProt
Col4a4 1286 P53420
Col4a4 12829 Q9QZR9
Anti-Rat Col4a4 Col4a4 301562  
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Catalogue No. Reactivité Sensibilité Gamme Images Quantité Fournisseur Livraison Prix Détails
Humain 0.78 ng/mL 3.12-200 ng/mL Typical standard curve 96 Tests Connectez-vous pour afficher 15 to 18 Days
$910.56
Détails
Souris 0.156 ng/mL 0.625-40 ng/mL   96 Tests Connectez-vous pour afficher 15 to 18 Days
$910.56
Détails

Plus Kits ELISA pour Col4a4 partenaires d'interaction

Human Collagen, Type IV, alpha 4 (Col4a4) interaction partners

  1. Results showed that COL4A4 c.1471C>T and COL4A3 c.3418 + 1G>T variants in cis are pathogenic and co-segregate with the benign familial hematuria. This result suggests that COL4A3 and COL4A4 digenic mutations in cis mimicking an autosomal dominant inheritance should be considered as a novel inheritance pattern of benign familial hematuria.

  2. Three collagen type IV alpha 4 chain (COL4A4) heterozygous mutations that lead to 3 different collagen type IV (Montrer COL4 Kits ELISA) kidney disease phenotypes, manifesting as Thin basement membrane nephropathy (TBMN), autosomal dominant Alport syndrome (ADAS (Montrer AGPS Kits ELISA)), and focal segmental glomerulosclerosis (FSGS (Montrer ACTN4 Kits ELISA)).

  3. For mutation screening, all exons of COL4A3 (Montrer COL4a3 Kits ELISA) and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicitymatched controls and the sequence of COL4A3 (Montrer COL4a3 Kits ELISA) and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene.

  4. Two families showed COL4A3 (Montrer COL4a3 Kits ELISA)/A4 mutations in cis, mimicking an autosomal dominant inheritance with a more severe phenotype and one showed COL4A3 (Montrer COL4a3 Kits ELISA)/A4 mutations in trans, mimicking an autosomal recessive inheritance with a less severe phenotype. In a fourth family, a de novo mutation (COL4A5 (Montrer COL4a5 Kits ELISA)) combined with an inherited mutation (COL4A3 (Montrer COL4a3 Kits ELISA)) triggered a more severe phenotype

  5. Alport syndrome is the result of mutations in any of three type IV collagen (Montrer COL4 Kits ELISA) genes, COL4A3 (Montrer COL4a3 Kits ELISA), COL4A4, or COL4A5 (Montrer COL4a5 Kits ELISA). Because the three collagen chains form heterotrimers, there is an absence of all three proteins in the basement membranes where they are expressed. (Review)

  6. These findings indicate that the heterozygous mutations in COL4A3 (Montrer COL4a3 Kits ELISA) or COL4A4 may cause ESRD on their own, although secondary factors, such as environmental factors or unknown genetic changes, might also contribute to the phenotype of kidney disease in patients with ADAS (Montrer AGPS Kits ELISA).

  7. mutations in COL4A3 (Montrer COL4a3 Kits ELISA), COL4A4, and COL4A5 (Montrer COL4a5 Kits ELISA) in Chinese patients with Alport Syndrome

  8. This finding broadens mutation spectrum of the COL4A4 gene and extends the phenotypic spectrum of collagen IV (Montrer COL4 Kits ELISA) nephropathies.

  9. A novel frameshift mutation, c.3213delA (p.Gly1072GlufsFNx0169) in the COL4A4 gene, was identified in the Chinese pedigree with autosomal dominant Alport syndrome

  10. 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.

Mouse (Murine) Collagen, Type IV, alpha 4 (Col4a4) interaction partners

  1. the NC1 domain of {alpha}3 chain is critical for {alpha}3{alpha}4{alpha}5 type IV collagen (Montrer COL4 Kits ELISA) network assembly

  2. Collagen alpha3(IV (Montrer COL4a3 Kits ELISA)) nor alpha4(IV) were detected in the lens capsule 2 weeks postnatal.

  3. In kidney, when expressed onto Col4a3 (Montrer COL4a3 Kits ELISA)(-/-) background, human alpha3(IV (Montrer COL4a3 Kits ELISA)) chain restored expression of and co-assembled with mouse alpha4 and alpha5(IV) chains at sites where human alpha3(IV (Montrer COL4a3 Kits ELISA)) was expressed. All three chains required for network assembly.

  4. Alpha3(IV (Montrer COL4a3 Kits ELISA)), alpha4(IV), and alpha5(IV) chains form a complex, which is a heterotrimer, and a defect in complex formation might be one of the molecular mechanisms underlying the pathogenesis of Alport syndrome.

Col4a4 profil antigène

Antigen 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.

Gene names and symbols associated with Col4a4

  • collagen type IV alpha 4 chain (COL4A4) anticorps
  • collagen, type IV, alpha 4 (col4a4) anticorps
  • collagen, type IV, alpha 4 (Col4a4) anticorps
  • collagen type IV alpha 4 chain (Col4a4) anticorps
  • CA44 anticorps
  • E130010M05Rik anticorps
  • [a]4(IV) anticorps

Protein level used designations for Col4a4

collagen alpha-4(IV) chain , collagen type IV alpha 4 chain , collagen, type IV, alpha 4 , alpha 4 type IV collagen , type IV collagen alpha 4 chain , collagen alpha-4(IV) chain-like , Collagen IV, alpha-4 polypeptide , collagen of basement membrane, alpha-4 chain , procollagen, type IV, alpha 4 , alpha type IV collagen basement membrane

GENE ID SPECIES
403841 Canis lupus familiaris
424799 Gallus gallus
459986 Pan troglodytes
554270 Danio rerio
708287 Macaca mulatta
100073948 Ornithorhynchus anatinus
100388461 Callithrix jacchus
100443710 Pongo abelii
100478914 Ailuropoda melanoleuca
100598507 Nomascus leucogenys
100621403 Sus scrofa
1286 Homo sapiens
12829 Mus musculus
301562 Rattus norvegicus
407107 Bos taurus
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