Gene: [07q2/COL1A2] collagen, type I, alpha 2; osteogenesis imperfecta, type III (MIM:259420); osteogenesis imperfecta, type IV (mild; MIM:166220); Ehlers-Danlos syndrome, type VII (MIM:130060); [OI4 ]
GEN | The gene length: 60 kb; exons: 52 (De Wet-1987). The exons are distributed as follows: 6 in the N-propeptide domain, 42 in the alpha-chain region, and 4 in the C-propeptide domain (De Wet-1987)." |
HET | [1] A marker OI4
(osteogenesis imperfecta, type IV, MIM:166220), which was previously
considered as independent and was mapped on the basis of close linkage with
COL1A2 (Tsipouras-1985), is probably an allelic form of COL1A2 locus.
[2] On other collagen pathologies, see FAM:COLL/00.0." |
MUT | Homozygosity for a gly751-to-ser mutation in the COL1A2 gene was demonstrated in 2 sibs with type III osteogenesis imperfecta (DePaepe-1997)." |
REF | POL,MOL "Brebner DK &: Hum Genet, 70, 25-27,
1985 PAT "Byers PH &: AJHG, 42, 237-248, 1988 PAT,MUT,FOG "De Paepe A &: Hum Genet, 99, 478-483, 1997 SEQ,GEN "De Wet W &: JBC, 262, 16032-16036, 1987 PAT,MUT "Edwards MJ &: Hum Mut, 1, 47-54, 1992 LIN,PAT "Falk CT &: AJHG, 38, 269-279, 1986 LIN,PAT,MUT "Grobler-Rabie AF &: EMBO J, 4, 1745-1748, 1985 PAT,MUT "Lund AM &: Hum Genet, 97, 287-290, 1996 PAT,MUT "Nicholls AC &: Hum Mut, 7, 219-227, 1996 PRO,LOC,FAG "Retief E &: Hum Genet, 69, 304-308, 1985 PAT,MUT "Rose NJ &: Hum Genet, 94, 497-503, 1994 COM,PAT,FAG "Tsipouras P &: CCG, 40, (HGM8), 763, 1985 PAT,MUT "Wenstrup RJ &: Am J Med Genet, 45, 228-232, 1993 |
SWI | SWISSPROT: P08123 |
KEY | bone, exce |
CLA | coding, basic |
LOC | 07 q21.3-22.1 |
MIM | MIM: 120160 |
SYN | OI4 |
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