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

Смотрите также:

  • Синдром Элерса-Данло (синдром Элерса-Данлоса)
  • Синдром Элерса-Данло: Col V AI ; Col V AII; Col III AI гены
  • HUGEN-Коллаген
  • HUGEN-проколлаген