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COL6A3 collagen, type VI, alpha 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004369 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $2448.00 $2399.00 24
NM_057164 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_057165 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_057166 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_057167 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $4749.00 40

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Gene Symbol COL6A3
Entrez Gene ID 1293
Full Name collagen, type VI, alpha 3
Synonyms DKFZp686D23123, DKFZp686K04147, DKFZp686N0262, FLJ34702, FLJ98399
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q37

Summary This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. 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 the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009].
Disorder

MIM: 120250

Bethlem myopathy, 158810 (3); Ullrich congenital muscular dystrophy,

mRNA Protein Product Sequence Price Select
NM_004369, 190343014 NP_004360, 55743098 collagen alpha-3(VI) chain isoform 1 precursor ORF Sequence $2199.00
NM_057164, 240255541 NP_476505, 240255542 collagen alpha-3(VI) chain isoform 2 precursor ORF Sequence $1500.00
NM_057165, 240255539 NP_476506, 240255540 collagen alpha-3(VI) chain isoform 3 precursor ORF Sequence $1500.00
NM_057166, 240255534 NP_476507, 240255535 collagen alpha-3(VI) chain isoform 4 precursor ORF Sequence $3500.00
NM_057167, 190343017 NP_476508, 55743106 collagen alpha-3(VI) chain isoform 5 precursor ORF Sequence $4500.00
KEGG
hsa04512ECM-receptor interaction
hsa04974Protein digestion and absorption
hsa04510Focal adhesion
hsa04151PI3K-Akt signaling pathway
Reactome
REACT_18266Axon guidance
REACT_18312NCAM1 interactions
REACT_120729Collagen formation
REACT_16888Signaling by PDGF
REACT_18334NCAM signaling for neurite out-growth
REACT_118779Extracellular matrix organization
REACT_111102Signal Transduction
REACT_111045Developmental Biology
REACT_121139Collagen biosynthesis and modifying enzymes
Homo sapiens (human)COL6A3NP_004360.2
Pan troglodytes (chimpanzee)COL6A3XP_001153544.1
Macaca mulatta (Rhesus monkey)COL6A3XP_001084624.1
Canis lupus familiaris (dog)COL6A3NP_001096685.1
Bos taurus (cattle)COL6A3XP_002686616.1
Mus musculus (house mouse)Col6a3NP_001229937.1
Rattus norvegicus (Norway rat)Col6a3NP_001102478.1
Gallus gallus (chicken)COL6A3NP_990865.1
Danio rerio (zebrafish)col6a3XP_002663415.2
GeneCards COL6A3
PDB 2KNT, 1KUN, 1KNT, 1KTH
UniProt Q63HQ4, D9ZGF2, B7ZW00, E9PGQ9, B4E3U5, Q8N4Z1, P12111
MIM 120250
Ensembl ENSG00000163359
HGNC 2213
HPRD 00371

Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
collagen alpha-3(VI) chain
Names
collagen alpha-3(VI) chain
collagen VI, alpha-3 polypeptide

Interactant



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