Gene: [02q34/FN1] fibronectin 1 (dysfibronectinemic Ehlers-Danlos syndrome X); Ehlers-Danlos syndrome, type X (dysfibronectinemic; MIM:225310);
|
GEN |
The gene length is 25 kb or more. The length of the mature transcript is 7.9 kb." |
|
MOP |
Characteristics of the molecular product are not determined definitely. It is generally accepted that fibronectin has two forms, plasmatic and cellular ones. In both cases, the active glycoprotein is a homodimer with MM about 430 kD, one subunit being 5 kD lighter. From one point of view, the differences between the subunits (as well as other variants of FN polypeptides) are accounted for by multiple (three or more) alternative splicing sites. However, other data suggest that the differences result from the presense of an aditional gene, which probably codes for a monomer of the cellular form of FN." |
|
FAG |
[1] Data on both the number of fibronectin genes in the human genome
and their localization remains controversial.
[2] The results of FN mapping with the use of immune phenotyping and blot hybridization with cDNA probes on hybrid somatic cells, as well as in situ hybridization on chromosomes (mitotic and meiotic), have not provided unequivocal conclusions as yet. Early data on the presence of a FN-like sequence in chr 8 was not confirmed. Therefore, FNZ gene is currently considered to be not a structural one but to influence the expression of the cellular FN form only. The major structural gene for the monomer of the plasmatic form is definitely mapped in chromosome 2q. However, data exist on the FN-like sequence hybridization sites in 2p and chr 11. In the latter, either a pseudogene or a coding gene for the cellular FN form is supposed to be located. [3] Since FN gene in chr 2q is not comletely cloned and sequenced and FN-like sequence 2 is not cloned, there are no direct evidences in favor of existence of either one or two coding FN genes. The HUGEN catalogue keeps, with minor changes, the system of their denotation that is adopted in the HGM catalogues (see GEM:02p1/FNL1 and GEM:08^/FNZ). The sequence FNL2 (GEM:11q1/FNL2) was not included in the GDB and HGM catalogues. [4] Alpha and beta subunits of fibronectin receptor have been found; their genes have been mapped to chrs 12q, 10p, and 19p, respectively (see GEM:12q1/ITGA5; GEM:10p112/ITGB1; and GEM:19p1/ITGB1L)." |
|
REF |
PHE,PAT "Arneson &: JAMA, 244, 144-147, 1980 FUN,PEP "Bernard &: JBC, 259, N15, 9899-9905, 1984 PHE,PAT "Clemmensen I: Eur J Clin Invest, 11, 145-146, 1981 PRO,SEQ,GEN,MOP,EXP "Dean DC &: PNAS, 84, N7, 1876-1880, 1987 COM,LOC "Eun CK, Clinger: CCG, 27, 57-65, 1980 FUN,PEP "Garcia-Pardo A &: BBRC, 120, N3, 1015-1021, 1984a FUN,PEP "Garcia-Pardo A &: JBC, 259, (Corrections), 10388, 1984b FUN,PEP "Garcia-Pardo A &: JBC, 258, N20, 12670-12674, 1983 PRO,SEQ,GEN,MOP,EXP "Gutman A &: PNAS, 84, N20, 7179-7182, 1987 PHE,PAT "Hammerschmidt &: JAMA, 248, 2487-2488, 1982 LOC,MOL "Henry &: CCG, 40, (HGM8), 650, 1985 PRO,SEQ,GEN,MOP,EXP "Hirano &: PNAS, 80, 46-50, 1983 LOC,MOL "Jhanwar SC &: CCG, 41, 47-53, 1986 COM,LOC "Koch GA &: Exp Cell Res, 141, 293-302, 1982 PRO,SEQ,GEN,MOP,EXP "Kornblihtt AR &: EMBO J, 4, N7, 1755-1759, 1985 PRO,SEQ,GEN,MOP,EXP "Kornblihtt AR &: EMBO J, 3, N1, 221-226, 1984 PRO,SEQ,GEN,MOP,EXP "Kornblihtt AR &: PNAS, 80, 3218-3222, 1983 FUN,PEP "Kurkinen &: BBA, 624, 490-498, 1980 PRO,SEQ,GEN,MOP,EXP "Mardon &: NAR, 15, N9, 7725-7732, 1987 FUN,PEP "Mosesson, Amrani: Blood, 56, 145-158, 1980 PRO,SEQ,GEN,MOP,EXP "Obara &: Cell, 53, 649-657, 1988 PRO,SEQ,GEN,MOP,EXP "Oldberg A &: JBC, 2618, N5, 2113-2116, 1986 PRO,SEQ,GEN,MOP,EXP "Oldberg A &: JBC, 258, N17, 10193-10196, 1983 FUN,PEP "Osterlund E: BBA, 955, 330-336, 1988 EXP "Oyama &: Biochemistry, 28, 1428-1434, 1989 LOC,MOL "Prowse KR &: CCG, 41, 42-46, 1986 LOC,MOL "Prowse KR &: CCG, 40, (HGM8), 724, 1985 COM,LOC "Rennard SI &: Biochem Genet, 19, N5-6, 551-566, 1981 PRO,SEQ,GEN,MOP,EXP "Sekiguchi K &: Biochemistry, 25, 4936-4941, 1986 PHE,PAT "Shirakami &: Lancet, 1, 473-474, 1986 PRO,SEQ,GEN,MOP,EXP "Umezawa K &: FEBS Lett, 186, N1, 31-34, 1985 EXP "Zardi L &: EMBO J, 6, N8, 2337-2342, 1987 LOC,MOL "Zardi L &: EMBO J, 1, 929-933, 1982 |
|
KEY |
exce, hem, derm |
|
CLA |
coding, basic |
|
LOC |
02 q34 |
|
MIM |
MIM: 135600 |
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