Gene: [02q3/COL3A1] collagen, type III, alpha 1; Ehlers-Danlos syndrome, type IV (ecchymotic, Sack-Barabas type; autosomal dominant, MIM:130050); Ehlers-Danlos syndrome, type IV (ecchymotic, Sack-Barabas type; autosomal recessive, MIM:225350); [EDS4A ]
COM | The COL3A1 gene was mapped to chromosome 2q32.2 (Limongi-1997). |
GEN | The gene length is 40 kb. |
FAG | [1] Four other genes were mapped to chromosome 2
that encode for different collagen forms. These are GEM:02q373/COL6A3; GEM:02q3/COL5A2; GEM:02q3/COL4A3; and GEM:02q3/COL4A4. [2] About the multigene family of collagen proteins, see FAM:COLL/00.0." |
HET | Over 15 forms of Ehlers-Danlos syndrome are known; see FAM:COLL/00.0. |
REF | PHE,FOG,PAT,MOL "Barabas AP: J Cardiovasc Surg, 13, 160-167,
1972 PHE,FOG,PAT,MOL "Byers &: Coll Res, 5, 475-489, 1981 PHE,FOG,PAT,MOL "Byers &: Hum Genet, 47, 141-150, 1979 PRO,SEQ,GEN "Chu ML &: JBC, 260, N7, 4357-4363, 1985 POL,MUT "Dalgleish R &: NAR, 13, N12, 4609, 1985 LOC,FAG "Emanuel BS &: PNAS, 82, N10, 3385-3389, 1985 PEP,SEQ,MOP "Fleischmajer &: PNAS, 78, N12, 7360-7364, 1981 PEP,SEQ,MOP "Hofmann &: J Mol Biol, 141, 293-314, 1980 LOC,FAG "Huerre-Jeanpierre C &: AJHG, 38, 26-37, 1986a LOC,FAG "Huerre-Jeanpierre C &: Hum Genet, 73, 64-67, 1986b LOC,FAG "Huerre-Jeanpierre C &: CCG, 40, (HGM8), 657, 1985 LOC,LIN "Limongi MZ &: CCG, 77, N3-4, 259-260, 1997 PRO,SEQ,GEN "Loidl HR &: NAR, 12, 9383-9394, 1984 PRO,SEQ,GEN "Miskulin M &: Biochemistry, 25, 1408-1413, 1986 LOC,FAG "Mudryj &: CCG, 40, (HGM8), 704, 1985 POL,MUT "Nicholls AC &: Hum Genet, 78, 276-281, 1988 PHE,FOG,PAT,MOL "Pope &: J Roy Soc Med, 73, 180-186, 1980 PHE,FOG,PAT,MOL "Pyeritz &: Am J Med Genet, 19, 607-622, 1984 PHE,FOG,PAT,MOL "Roberts &: Brit J Derm, 111, 341-345, 1984 EXP,PRO "Sandberg, Vuorio: J Cell Biol, 104, (Apr), 1077-1084, 1987 PHE,FOG,PAT,MOL "Schwartz &: AJHG, 37, A173, 1985 LOC,FAG "Solomon E &: PNAS, 82, N10, 3330-3334, 1985 PHE,FOG,PAT,MOL "Superti-Furga, Steinmann: BBRC, 150, 140-147, 1988 PRO,SEQ,EVO "Toman PD &: NAR, 16, N14, 7201, 1988 LOC,LIN,FAG "Tsipouras P &: Genomics, 3, 275-277, 1988 POL,MUT "Tsipouras P &: Hum Genet, 74, 41-46, 1986 |
SWI | SWISSPROT: P02461 |
KEY | exce, bone, derm |
CLA | coding, basic |
LOC | 02 q31-32 |
MIM | MIM: 120180 |
SYN | EDS4A |
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