Latent-transforming growth factor beta-binding protein 2
The LTBP2 gene encodes a transforming growth factor receptor that is involved in cell adhesion. Mutations cause autosomal recessive hereditary glaucoma 3D.
Genetests:
Related Diseases:
References:
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Haji-Seyed-Javadi R et al. (2012) LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
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Khan AO et al. (2011) Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.
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Azmanov DN et al. (2011) LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
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Kumar A et al. (2010) A homozygous mutation in LTBP2 causes isolated microspherophakia.
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Désir J et al. (2010) LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.
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Narooie-Nejad M et al. (2009) Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
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Ali M et al. (2009) Null mutations in LTBP2 cause primary congenital glaucoma.
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Oklü R et al. (2000) The latent transforming growth factor beta binding protein (LTBP) family.
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Shipley JM et al. (2000) Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development.
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Morén A et al. (1994) Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein.
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Orphanet article
Orphanet ID 189348
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OMIM.ORG article
Omim 602091
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NCBI article
NCBI 4053
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14. |
Wikipedia article
Wikipedia EN (LTBP2)
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Update: Aug. 14, 2020