Gene: [14q24/LTBP2] latent transforming growth factor beta binding protein 2; Marfan syndrome, atypical; [LTBP-2 ]

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."

FUN

LTBP-proteins are covalently bound to extracellular matrix and mediate the matrix binding of TGF-beta (GEM:19q131/TGFB1 and others)."

FAG

On other LTBP genes see GEM:02^/LTBP1.

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)."

REF

MUT,PHE "Mathews KR, Godfrey M: AJHG, 61, (Suppl), A44, 1997
LOC "Moren A &: JBC, 269, N51, 32469-32478, 1994

KEY

exce, cyk

CLA

coding, basic

LOC

14 q24

MIM

MIM: 602091

SYN

LTBP-2