Rabbit anti-Human COL9A1 Polyclonal Antibody | anti-COL9A1 antibody

COL9A1, ID (Collagen alpha-1(IX) Chain) (PE)

Cat. Num. AAA6469918

• Gene Names: COL9A1; MED; EDM6; STL4; DJ149L1.1.2
• Reactivity: Human
• Applications: Immunohistochemistry, Western Blot
• Purity: Purified by Ammonium Sulfate Precipitation.
• Synonyms: COL9A1; Polyclonal Antibody; ID (Collagen alpha-1(IX) Chain) (PE); anti-COL9A1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human COL9A1.
• Purity/Purification: Purified by Ammonium Sulfate Precipitation.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with R-Phycoerythrin (PE).
• Sequence Length: 921

• Applicable Applications for anti-COL9A1 antibody: Immunohistochemistry (IHC), FLISA, Western Blot (WB)
• Application Notes: IHC: 1:10-1:50; FLISA: 1:1,000; WB: 1:50-1:100; Applications are based on unconjugated antibody.
• Immunogen: Synthetic peptide selected from the center region of human COL9A1 (KLH).
• Conjugate: PE
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: PE conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(Western blot analysis of anti-COL9A1 Antibody (Center) in 293 cell line lysates (35ug/lane). COL9A1(arrow) was detected using the purified Pab.)

Immunohistochemistry (IHC)

(Formalin-fixed and paraffin-embedded human breast carcinoma tissue reacted with COL9A1 antibody (Center), which was peroxidase-conjugated to the secondary antibody, followed by DAB staining. This data demonstrates the use of this antibody for immunohistochemistry; clinical relevance has not been evaluated.)

Product Categories/Family for anti-COL9A1 antibody

Antibodies; Collagen

References

1. Fresquet, M., J. Biol. Chem. 282(48), 34634-34643 (2007). 2. Liu, L.Y., Yi Chuan 29(4), 427-432 (2007). 3. Van Camp, G., Am. J. Hum. Genet. 79(3), 449-457 (2006). 4. Sivakumaran, T.A., J. Assoc. Res. Otolaryngol. 7(2), 160-172 (2006).

NCBI and Uniprot Product Information

• NCBI GI #: 73486666
• NCBI GeneID: 1297
• NCBI Accession #: NP_001842
• NCBI GenBank Nucleotide #: NP_001842.3
• UniProt Accession #: P20849
• Molecular Weight: 91.855
• NCBI Official Full Name: collagen alpha-1(IX) chain isoform 1
• NCBI Official Synonym Full Names: collagen type IX alpha 1 chain
• NCBI Official Symbol: COL9A1
• NCBI Official Synonym Symbols: MED; EDM6; STL4; DJ149L1.1.2
• NCBI Protein Information: collagen alpha-1(IX) chain
• UniProt Protein Name: Collagen alpha-1(IX) chain
• Protein Family: Collagen
• UniProt Gene Name: COL9A1
• UniProt Entry Name: CO9A1_HUMAN

NCBI Description

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. [provided by RefSeq, Jul 2008]

Uniprot Description

COL9A1: Structural component of hyaline cartilage and vitreous of the eye. Defects in COL9A1 are the cause of multiple epiphyseal dysplasia type 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. Defects in COL9A1 are the cause of Stickler syndrome type 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. 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. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 6q13

Cellular Component: proteinaceous extracellular matrix; endoplasmic reticulum lumen; extracellular region

Molecular Function: metal ion binding; extracellular matrix structural constituent conferring tensile strength

Biological Process: extracellular matrix disassembly; axon guidance; collagen catabolic process; organ morphogenesis; extracellular matrix organization and biogenesis; tissue homeostasis

Disease: Stickler Syndrome, Type Iv; Epiphyseal Dysplasia, Multiple, 6