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COL9A1 encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Additionally we are shipping COL9A1 Antibodies (51) and COL9A1 Kits (25) and many more products for this protein.
Showing 6 out of 9 products:
Data show that mutation of collagen IXalpha1 causes a significant reduction in the size and dramatic structural defects in collagen II-rich extracellular matrices of both embryonic finfolds and adult fins.
the COL9A1 rs35470562 variant may contribute to congenital talipes equinovarus susceptibility in the Chinese population examined.
We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD.
The study demonstrated that hypermethylation is associated with down-regulation of COL9A1 expression in osteoarthritic (OA) cartilage and highlights the pivotal role of epigenetics in OA.
The NC2 domain of type IX collagen determines the chain composition but also the chain register of the triple helix.
Type IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage
A second, novel mutation was identified in COL9A1, causing autosomal recessive Stickler syndrome together with the previously described nucleotide change in two separate families.
COL9A1 protein is highly expressed in patients with idiopathic congenital talipes equinovarus (ICTEV) and rs1135056, which is located in the coding region of COL9A1 gene, may be associated with the pathogenesis of ICTEV.
NC2 domain of collagen IX provides chain selection and heterotrimerization
This study extends the range of gene-mutations that can cause multiple epiphyseal dysplasia-related myopathy.
Data show that the proximal-promoter region of the human COL9A1 gene can drive expression of a reporter gene in chondrocytic RCS cells, but not in nonchondrocytic cell lines.
the amino-terminal NC4 domain of human collagen IX interacts with glycosaminoglycans and cartilage oligomeric matrix protein
COMP, type IX collagen and MATN3 play important roles in matrix assembly
A search of the microRNA database revealed a highly conserved target sequence for miR-9 immediately preceding the overlapping polyadenylation signals in the novel 3' UTR of COL9A1, suggesting its role in posttranscriptional regulation of COL9A1.
COL9A1 is the fourth identified gene that can cause Stickler syndrome.
analysis of the crystal structure of the N-terminal NC4 domain of collagen IX
the matrilin-3 A-domain appears to bind exclusively to the COL3 domain of type IX collagen and this binding is abolished in the presence of a disease causing mutation in type IX collagen
mutation causes multiple epiphyseal dysplasia; genetic heterogeneity
An accelerated hypertrophic differentiation caused by a disturbed Ihh-PTHrP signaling pathway may lead to a higher bone mineral density in the vertebral bodies of newborn Col IX -/- mice and, as a result, to the early onset of disc degeneration.
Results show that absence of Col IX induces early developmental, structural and biomechanical alterations in both vertebral body and intervertebral disc which eventually cause severe degenerative changes in the aging spine.
Proteomic analysis of interaction partners of collagen alpha1 IX in the articular cartilage of mice.
They test the hypothesis that aged Col9a1(-/-) mice would reduce joint pain by adopting locomotor behaviors that reduce both the magnitude and daily frequency of joint loading.
Loss of type IX collagen and COMP leads to matrix aberrations that may make cartilage more susceptible to degeneration.
Type IX collagen knock-out mouse shows progressive hearing loss.
the genes encoding each chain of type IX collagen may fulfill an important function associated with the tectorial membrane in the auditory system.
ColVa1+/- and ColXIa1-/- mutants were used to identify roles for ColVa1 and ColXIa1 in ventricular myocardial morphogenesis and heart valve development.
Endochondral bone formation can occur in collagen IX knockout mice but is impaired under conditions of stress, such as the repair of an unfixed fractured long bone.
A deletion mutation for type IX collagen is associated with connective tissue changes characteristic of musculoskeletal degeneration in bony and cartilaginous tissue regions
mineralized bone matrix deficient of short collagen IX may become susceptible to osteoclastic bone resorption, possibly through a novel non-cell-autonomous mechanism
all long bones are shorter and broader in newborn Col9a1-/- mice
Col9a1(-/-) mice present behavioral changes consistent with anatomic signs of osteoarthritis and intervertebral disc degeneration.
This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene.
collagen type IX alpha I
, collagen, type IX, alpha 1
, alpha 1 type IX collagen
, collagen alpha-1(IX) chain-like
, alpha-1(IX) collagen chain
, cartilage-specific short collagen
, collagen IX, alpha-1 polypeptide
, collagen alpha-1(IX) chain
, procollagen, type IX, alpha 1
, alpha(IX) collagen-proteoglycan
, cartilage alpha(IX) collagen