Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06889 (Mol)
 630,302 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glaucomas are a heterogeneous group of eye conditions with manifestation from as early as birth to very late age of onset in life. The primary type of these conditions affecting children and juveniles are less frequent, but the prevalence of glaucomas affecting older people of > or = 70 years progressively rises to approximately 5%. The molecular genetics of three types of glaucoma have been the subject of investigation in the last few years. As a result, two loci (GLC3A and GLC3B) have been identified for primary congenital glaucoma, one locus (GLC1A) for juvenile-onset primary open angle glaucoma and a further two loci (GLC1B and GLC1C) for late-onset chronic open angle glaucoma. Early this year, the first set of mutations was described in the CYP1B1 (Cytochrome P4501B1) and TIGR (Trabecular meshwork Inducible Glucocorticoid Response Protein) genes for the GLC3A and GLC1A-linked families, respectively. The mapping of different types of glaucoma and mutation identification in these two genes are the focus of this review.
Hum Mol Genet 1997
PMID:Recent advances in molecular genetics of glaucomas. 930 Jun 58

In order to identify new markers around the glaucoma locus GLC1B as a tool to refine its critical region at 2p11.2-2q11.2, we searched the critical region sequence obtained from the UCSC database for tetranucleotide (GATA)n and (GTCT)n repeats of at least 10 units in length. Three out of four potential microsatellite loci were found to be polymorphic, heterozygosity ranging from 64.56% to 79.59%. The identified markers are useful not only for GLC1B locus but also for the study of other disease loci at 2p11.2-2q11.2, a region with scarcity of microsatellite markers.
Genet Mol Biol 2009 Oct
PMID:Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12. 2163 44