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Gene Review:

GLC3B - glaucoma 3, primary infantile, B

Homo sapiens

Akarsu, A.N. et al., Tomarev, S.I. et al., Stoilov, I. et al.

Tomarev, Wistow, Raymond, Dubois, Malyukova,

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Disease relevance of GLC3B

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region [1].
Herein, we describe mapping of a new locus (designated GLC3B) for primary congenital glaucoma to the short arm of chromosome 1 (1p36.2-36.1) that is situated centromeric to the neuroblastoma and Charcot-Marie-Tooth type 2A (CMT2A) loci [1].

High impact information on GLC3B

Previously, we reported two chromosomal locations for this condition on 2p21 (GLC3A) and 1p36 (GLC3B) respectively [2].
One abundant TM transcript was from the gene for the angiopoietin-like factor CTD6, which is located at on the long arm of chromosome 1, area 36.2-36.1 in the region of the glaucoma locus GLC3B, whereas other transcripts were from genes close to known glaucoma loci [3].

References

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Akarsu, A.N., Turacli, M.E., Aktan, S.G., Barsoum-Homsy, M., Chevrette, L., Sayli, B.S., Sarfarazi, M. Hum. Mol. Genet. (1996) [Pubmed]
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Stoilov, I., Akarsu, A.N., Sarfarazi, M. Hum. Mol. Genet. (1997) [Pubmed]
Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis. Tomarev, S.I., Wistow, G., Raymond, V., Dubois, S., Malyukova, I. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]

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