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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