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Mouse Anti-COL9A1 Recombinant Antibody (CBFYC-2084) (CBMAB-C2150-FY)

This product is mouse antibody that recognizes COL9A1. The antibody CBFYC-2084 can be used for immunoassay techniques such as: IHC-Fr, WB, IHC-P.
See all COL9A1 antibodies

Summary

Host Animal
Mouse
Specificity
Cattle, Human, Mouse, Rabbit, Rat
Clone
CBFYC-2084
Antibody Isotype
IgG2a
Application
IHC-Fr, WB, IHC-P

Basic Information

Specificity
Cattle, Human, Mouse, Rabbit, Rat
Antibody Isotype
IgG2a
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Collagen Type IX Alpha 1 Chain
Introduction
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.
Entrez Gene ID
Human1297
Mouse12839
Rat305104
Rabbit103349793
Cattle282195
UniProt ID
HumanP20849
MouseQ05722
RatP20850
RabbitG1T368
CattleF1MND9
Alternative Names
MED; EDM6; STL4; DJ149L1.1.2
Function
Structural component of hyaline cartilage and vitreous of the eye.
Biological Process
Animal organ morphogenesis Source: ProtInc
Collagen fibril organization Source: Reactome
Extracellular matrix organization Source: GO_Central
Cellular Location
Extracellular matrix
Involvement in disease
Multiple epiphyseal dysplasia 6 (EDM6):
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
Stickler syndrome 4 (STL4):
An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.
PTM
Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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