Gene: [02q373/COL6A3] collagen, type VI, alpha 3; Bethlem myopathy;


FAG

[1] Genes for two other collagen VI subunits form a syntenic group in Chr 21q (GEM:21q223/COL6A1 and GEM:21q223/COL6A2; see also FAM:COL6/00.0).
[2] On the collagen protein multigene family, see FAM:COLL/00.0.
[3] On the collagen gene group that is mapped in Chr 2, see GEM:02q3/COL3A1."

REF

CLO,SEQ,LOC,FAG "Chu M-L &: Eur J Biochem, 168, 309-317, 1987
FUN,PEP,MOP "Chung &: BBRC, 71, 1167-1174, 1976
FUN,PEP,MOP "Engel &: Ann NY Acad Sci, 460, 25-37, 1985
FUN,PEP,MOP "Furthmayr &: Biochem J, 211, 303-311, 1983
FUN,PEP,MOP "Furuto, Miller: Biochemistry, 20, 1635-1640, 1981
FUN,PEP,MOP "Hessle, Engvall: JBC, 259, 3955-3961, 1984
FUN,PEP,MOP "Jander &: Eur J Biochem, 133, 39-46, 1983
LOC "Lu-Kuo J &: Genomics, 16, N1, 173-179, 1993
PAT "Murata &: BBRC, 147, 275-281, 1987
FUN,PEP,MOP "Odermatt &: Biochem J, 211, 295-302, 1983
MUT "Pan TC &: Hum Mol Genet, 7, N5, 807-812, 1998
FUN,PEP,MOP "Trueb, Winterhalter: EMBO J, 5, 2815-2819, 1986
FUN,PEP,MOP "Trueb, Bornstein: JBC, 259, N13, 8597-8604, 1984
CLO,SEQ,LOC,FAG "Weil D &: AJHG, 42, 435-445, 1988

SWI

 SWISSPROT: P12111

KEY

exce

CLA

coding, basic

LOC

02 q37.3

MIM

 MIM: 120250

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