anti-Collagen, Type VI, alpha 2 (COL6A2) Antibodies

Human Collagen, Type VI, alpha 2 (COL6A2) interaction partners

1. binding of collagen VI to NG2 is essential for the direction of tendon fibroblasts migration in vitro.

2. Genetic study showed a missense mutation in COL6A2 (c.820 G>A, p.Gly268Ser) that causes a glycine substitution in the Gly-X-Y collagenous motif, at the beginning of the collagenous triple helical domain. The c.820 G>A mutation segregated in all the affected patients.

3. Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring.

4. Mutations in COL6A2 gene are associated with aberrant mitochondria in Bethlem myopathy.

5. In UCMD, 8 mutations were identified in COL6A2 in Chinese patients.

6. Mutations in each of the three collagen VI genes, COL6A1, COL6A2 and COL6A3, cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review)

7. COL6A2 is overexpressed in Down syndrome-affected umbilical cords at early and term gestational ages.

8. Homozygous COL6A2 mutation, p.Asp215Asn, was identified in both affected siblings. We conclude that the COL6A2 p.Asp215Asn mutation is likely to be responsible for PME (Progressive Myoclonus Epilepsy) in this family.

9. A deletion within intron 1A of the COL6A2 gene, occurring in compound heterozygosity with a small deletion in exon 28, was identified in a BM patient.

10. the C2A splice variant has a role in recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy

11. The alpha2(VI) chain modulates matrix-metalloproteinase (MMP) availability by sequestering proMMPs in the extracellular matrix, blocking proteolytic activity.

12. Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded

13. the C-terminal globular domain of COL6A2 is not essential for triple-helix formation but is critical for microfibrillar assembly in Ullrich congenital muscular dystrophy

14. A case of Ullrich disease is associated with complete deficiency of collagen VI and compound heterozygous mutations in the collagen VI alpha 2 gene with absence of microfibrils on electron microscopy.

15. Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures, caused by mutations in COL6A1 gene, COL6A2 gene or COL6A3 gene.

16. In Ullrich syndrome, a heterozygous G-to-A substitution at position +5 in intron 23 & the corresponding heterozygous 6-bp deletion in exon 26 which deleted 1 of the 2 tandem repeats of the sequence CATCGG in nt 2268-2273 & 2274-2279 in COL6A2 ORF.

17. dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD).

18. diminished COL6A2 mRNA expression found to be primary pathogenic mechanism in UCMD patient

19. This study demonstrates a homogenoeous overexpression of the genes encoding for alpha1 and alpha2 chains of collagen type VI in nuchal skin of human trisomy 21 fetuses.

20. Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3.

Mouse (Murine) Collagen, Type VI, alpha 2 (COL6A2) interaction partners

1. gamma-sarcoglycan-null/Col6a2Deltaex5 (Col6a2 deficient) mice exhibit reduced muscle pathology compared with gamma-sarcoglycan-null mice. Specifically, fewer muscle fibers are degenerating, fiber size varies less. Surprisingly, in spite of this reduction in muscle pathology, muscle function is not significantly improved.