Collagen VI

Collagen VI

Collagen VI is a form of collagen primarily associated with the extracellular matrix of skeletal muscle.[1]

It is associated with the genes COL6A1, COL6A2, and COL6A3.

Defects are associated with Bethlem myopathy and Ullrich congenital muscular dystrophy.[2][3][4]

References

  1. ^ Merlini L, Angelin A, Tiepolo T, et al. (April 2008). "Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies". Proc. Natl. Acad. Sci. U.S.A. 105 (13): 5225–9. doi:10.1073/pnas.0800962105. PMC 2278179. PMID 18362356. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=18362356. 
  2. ^ http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bethlem
  3. ^ Lampe AK, Bushby KM (September 2005). "Collagen VI related muscle disorders". J. Med. Genet. 42 (9): 673–85. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002. http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=16141002. 
  4. ^ Merlini L, Bernardi P (October 2008). "Therapy of collagen VI-related myopathies (Bethlem and Ullrich)". Neurotherapeutics 5 (4): 613–8. doi:10.1016/j.nurt.2008.08.004. PMID 19019314. http://linkinghub.elsevier.com/retrieve/pii/S1933-7213(08)00143-8. 

External links

v · Protein: scleroproteins
Extracellular matrix
Fibril forming
type I (COL1A1, COL1A2) · type II (COL2A1) · type III · type V (COL5A1, COL5A2, COL5A3) · COL24A1 · COL26A1
Other

FACIT: type IX (COL9A1, COL9A2, COL9A3) · type XII (COL12A1) · COL14A1 · COL16A1 · COL19A1 · COL20A1 · COL21A1 · COL22A1

basement membrane: type IV (COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6)

multiplexin: COL15A1 · type XVIII (COL18A1, Endostatin)

transmembrane: COL13A1 · COL17A1 · COL23A1 · COL25A1

other: type VI (COL6A1, COL6A2, COL6A3) · type VII (COL7A1) · type VIII (COL8A1, COL8A2) · type X (COL10A1) · type XI (COL11A1, COL11A2) · COL27A1 · COL28A1 · COL29A1
alpha (LAMA1, LAMA2, LAMA3, LAMA4, LAMA5) · beta (LAMB1, LAMB2, LAMB3, LAMB4) · gamma (LAMC1, LAMC2, LAMC3)
Other
ALCAM · Elastin (Tropoelastin) · Vitronectin · FRAS1 · FREM2 · Decorin · FAM20C · ECM1 · Matrix gla protein · Tectorin (TECTA, TECTB)
Other
see also diseases
B proteins: BY STRUCTURE: membrane, globular (en, ca, an), fibrous
v · d · eGenetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin)
Collagen disease

COL1: Osteogenesis imperfecta · Ehlers–Danlos syndrome, types 1, 2, 7

COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita · Spondyloepimetaphyseal dysplasia, Strudwick type · Kniest dysplasia (see also C2/11)

COL3: Ehlers–Danlos syndrome, types 3 & 4 (Sack–Barabas syndrome)

COL4: Alport syndrome

COL5: Ehlers–Danlos syndrome, types 1 & 2

COL6: Bethlem myopathy · Ullrich congenital muscular dystrophy

COL7: Epidermolysis bullosa dystrophica · Recessive dystrophic epidermolysis bullosa · Bart syndrome · Transient bullous dermolysis of the newborn

COL8: Fuchs' dystrophy 1

COL9: Multiple epiphyseal dysplasia 2, 3, 6

COL10: Schmid metaphyseal chondrodysplasia

COL11: Weissenbacher–Zweymüller syndrome · Otospondylomegaepiphyseal dysplasia (see also C2/11)

COL17: Bullous pemphigoid
Laminin
Junctional epidermolysis bullosa · Laryngoonychocutaneous syndrome
Other
see also fibrous proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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