Gene: [09q343/COL5A1] collagen, type V, alpha 1; Ehlers-Danlos syndrome, type I (MIM:130000); Ehlers-Danlos syndrome, type II (MIM:130010); [EDS1 EDS2 ]
FAG | [1] At
least two alpha peptides of collagen V have been identified - A1 (or B?,
according to the old denotation) and A2 (or A, see GEM:02q3/COL5A2). A third form is assumed (A3 or C,
see GEM:00.0/COL5A3). See also MIM:120170.
[2] On the multigene family of collagen proteins, see FAM:COLL/00.0." |
REF | FUN,PEP,MOP "Brown, Weiss: FEBS Lett, 106, 71-75, 1979 FUN,PEP,MOP "Burgeson &: PNAS, 73, 2579-2583, 1976 LIN,LOC,PAT "Burrows NP &: J Invest Derm, 106, 1273-1276, 1996 PAT,MOL "Leushner, Haust: Can J Biochem Cell Biol, 63, 1176-1182, 1985 CLO,SEQ "Myers JC &: JBC, 260, N9, 5533-5541, 1985 FUN,PEP,MOP "Niyibizi &: JBC, 259, N22, 14170-14174, 1984 PAT,MOL "Ooshima A: Science, 213, (7 Aug), 666-668, 1981 FUN,PEP,MOP "Sage, Bornstein: Biochemistry, 18, 3815-3822, 1979 FUN,PEP,MOP "van der Rest &: Ann NY Acad Sci, 460, 517-519, 1985 MUT,PAT "Wenstrup RJ &: Hum Mol Genet, 5, 1733-1736, 1996 |
SWI | SWISSPROT: P20908 |
KEY | exce |
CLA | coding, basic |
LOC | 09 q34.3 |
MIM | MIM: 120215 |
SYN | EDS1 EDS2 |
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