Cell Biology Antibodies 9

Anti-COL6A2 Antibody (CAB3796)

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SKU:
CAB3796
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Cell Biology

Description

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Antibody Name:Anti-COL6A2 Antibody
Antibody SKU:CAB3796
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 720-1019 of human COL6A2 (NP_001840.3).
Application:WB
Recommended Dilution:WB 1:200 - 1:2000
Reactivity:Human, Mouse
Positive Samples:HeLa, HT-1080, SKOV3, LO2, THP-1, Mouse lung
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 720-1019 of human COL6A2 (NP_001840.3).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:RQKT RVFA VVIT DGRH DPRD DDLN LRAL CDRD VTVT AIGI GDMF HEKH ESEN LYSI ACDK PQQV RNMT LFSD LVAE KFID DMED VLCP DPQI VCPD LPCQ TELS VAQC TQRP VDIV FLLD GSER LGEQ NFHK ARRF VEQV ARRL TLAR RDDD PLNA RVAL LQFG GPGE QQVA FPLS HNLT AIHE ALET TQYL NSFS HVGA GVVH AINA IVRS PRGG ARRH AELS FVFL TDGV TGND SLHE SAHS MRKQ NVVP TVLA LGSD VDMD VLTT LSLG DRAA VFHE KDYD SLAQ PGFF DRFI RWIC
Gene ID:1292
Uniprot:P12110
Cellular Location:Membrane, Peripheral membrane protein, Secreted, extracellular matrix, extracellular space
Calculated MW:87kDa/97kDa/108kDa
Observed MW:108kDa
Synonyms:COL6A2, BTHLM1, PP3610, UCMD1
Background:This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene.
UniProt Protein Function:COL6A2: Collagen VI acts as a cell-binding protein. Defects in COL6A2 are a cause of Bethlem myopathy (BM). BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles. Defects in COL6A2 are a cause of Ullrich congenital muscular dystrophy (UCMD); also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. Defects in COL6A2 are the cause of myosclerosis autosomal recessive (MYOSAR); also known as myosclerotic myopathy or congenital myosclerosis of Lowenthal. A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. Belongs to the type VI collagen family. 3 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Secreted, signal peptide; Secreted; Extracellular matrix

Chromosomal Location of Human Ortholog: 21q22.3

Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; collagen; protein complex; endoplasmic reticulum lumen; extracellular region; vesicle; sarcolemma

Molecular Function:protein binding

Biological Process: axon guidance; collagen catabolic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; response to glucose stimulus; cell adhesion

Disease: Bethlem Myopathy; Myosclerosis, Autosomal Recessive; Ullrich Congenital Muscular Dystrophy

NCBI Summary:This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
UniProt Code:P12110
NCBI GenInfo Identifier:125987812
NCBI Gene ID:1292
NCBI Accession:P12110.4
UniProt Secondary Accession:P12110,Q13909, Q13910, Q13911, Q14048, Q14049, Q16259 Q16597, Q6P0Q1, Q9UML3, Q9Y4S8,
UniProt Related Accession:P12110
Molecular Weight:1019
NCBI Full Name:Collagen alpha-2(VI) chain
NCBI Synonym Full Names:collagen, type VI, alpha 2
NCBI Official Symbol:COL6A2  
NCBI Official Synonym Symbols:PP3610  
NCBI Protein Information:collagen alpha-2(VI) chain; collagen alpha-2(VI) chain; collagen VI, alpha-2 polypeptide; human mRNA for collagen VI alpha-2 C-terminal globular domain
UniProt Protein Name:Collagen alpha-2(VI) chain
Protein Family:Collagen
UniProt Gene Name:COL6A2  
UniProt Entry Name:CO6A2_HUMAN
Anti-COL6A2 Antibody (CAB3796)Western blot analysis of extracts of various cell lines, using COL6A2 antibody (CAB3796) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 40s.
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