Gene: [14q24/LTBP2] latent transforming growth factor beta binding protein 2; Marfan syndrome, atypical; [LTBP-2 ]
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COM |
Moren-1994 identified a novel latent transforming growth factor-beta binding protein and mapped it to Chr 14q24 by analysis of somatic cell hybrids and by fluorescence in situ hybridization. They called the gene LTBP-2; however, the symbol was later changed to LTBP3. The LTBP3 gene on Chr 11 is described in GEM 11q12/LTBP3." |
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FUN |
LTBP-proteins are covalently bound to extracellular matrix and mediate the matrix binding of TGF-beta (GEM:19q131/TGFB1 and others)." |
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FAG |
On other LTBP genes see GEM:02^/LTBP1. |
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MUT |
Mathews and Godfrey (Mathews-1997) found 2 independent mutations in the latent TGF-beta binding protein gene on Chr 14 (in individuals whose phenotypes overlap those of MFS (MIM:154700), yet do not meet clinical criteria)." |
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REF |
MUT,PHE "Mathews KR, Godfrey M: AJHG, 61, (Suppl), A44, 1997 LOC "Moren A &: JBC, 269, N51, 32469-32478, 1994 |
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KEY |
exce, cyk |
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CLA |
coding, basic |
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LOC |
14 q24 |
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MIM |
MIM: 602091 |
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SYN |
LTBP-2 |
