COL6A1 Antilichaam - middengebied: FITC (ARP45803_P050-FITC)

Collagen, type VI, alpha 1

OPLL, BTHLM1, UCHMD1

1291

P12109

NP_001839

Human, Mouse, Rat, Cow, Dog, Horse, Pig, Rabbit

The immunogen is a synthetic peptide directed towards the middle region of human COL6A1

COL6A1 is a collagen VI which acts as a cell-binding protein.Defects in COL6A1 are a cause of Bethlem myopathy (BM) .The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1 (VI), alpha2 (VI), and alpha3 (VI) chains. The alpha2 (VI) and alpha3 (VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1 (VI) chain) . Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. This gene, which encodes a neural small non-messenger RNA, is a member of the family of interspersed repetitive DNA, and its product represents an example of a primate tissue-specific RNA polymerase III transcript. The RNA sequence is divided into three domains: a 5' portion homologous to the Alu Lm, a central adenosine-rich region, and the terminal 43-nt nonrepetitive domain. It is believed that this gene was retropositionally generated and recruited into a function regulating dendritic protein biosynthesis. At least two pseudogenes of this gene have been identified. PRIMARYREFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-200 AF020057.2 4262-4461

PDGFB; PDGFA; PDIA3; FBXO6; UBC; VHL; DNAJB11; LGALS3BP; LAMB1; FGF7; COL2A1; MAG; DCN

FITC: Fluorescein Isothiocyanate

Polyclonal Antibody

WB

Affinity Purified

There is BioGPS gene expression data showing that COL6A1 is expressed in 721_B

0.5 mg/ml

Cow: 93%; Dog: 100%; Horse: 93%; Human: 100%; Mouse: 86%; Pig: 100%; Rabbit: 100%; Rat: 93%

Liquid. Purified antibody supplied in 1x PBS buffer.

All conjugated antibodies should be stored in light-protected vials or covered with a light protecting material (i.e. aluminum foil) . Conjugated antibodies are stable for at least 12 months at 4C. If longer storage is desired (24 months), conjugates may be diluted with up to 50% glycerol and stored at -20C to -80C. Freezing and thawing conjugated antibodies will compromise enzyme activity as well as antibody binding.

106kDa

Hicks, D., (2008) Neurology 70 (14), 1192-1199

Wet Ice

1028

COL6A1

COL6A1

Rabbit

Collagen alpha-1 (VI) chain

NM_001848

ADITILLDGSASVGSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQ