TY - JOUR
T1 - Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24
AU - Xu, Hong
AU - Acott, Ted S.
AU - Wirtz, Mary K.
N1 - Funding Information:
We thank the Portland Lion’s Eye Bank for providing eyes. This work was supported by NEI Grants EY10555, EY11650, EY03279, EY08247, and EY10572 and grants from the Glaucoma Research Foundation, American Health Assistance Foundation, Research to Prevent Blindness, and Alcon Laboratories.
PY - 2000/6/15
Y1 - 2000/6/15
N2 - A novel human Type I procollagen C-proteinase enhancer protein-like gene, PCOLCE2, was identified by sequencing an EST in the primary open-angle glaucoma (POAG) region on 3q21. The total cDNA encoded a 415-amino-acid protein that has 43% identity to the Type I procollagen C-proteinase enhancer protein (PCOLCE1). PCOLCE2 contains two CUB domains, which are thought to be involved in protein-protein interactions, and an NTR module. PCOLCE2 message is expressed in the trabecular meshwork, lungs, heart, brain, liver, skeletal muscle, kidney, pancreas, and placenta as a 2-kb message. PCOLCE2, a 52-kDa protein, is expressed in the trabecular meshwork. A novel gene, PCOLCE2, has been identified and characterized. Based upon its homology with collagen-binding proteins, its expression in the trabecular meshwork, and its chromosome location, PCOLCE2 is a candidate gene for GLC1C. However, no coding sequence mutations were detected in PCOLCE2 in a POAG patient from the GLC1C family. (C) 2000 Academic Press.
AB - A novel human Type I procollagen C-proteinase enhancer protein-like gene, PCOLCE2, was identified by sequencing an EST in the primary open-angle glaucoma (POAG) region on 3q21. The total cDNA encoded a 415-amino-acid protein that has 43% identity to the Type I procollagen C-proteinase enhancer protein (PCOLCE1). PCOLCE2 contains two CUB domains, which are thought to be involved in protein-protein interactions, and an NTR module. PCOLCE2 message is expressed in the trabecular meshwork, lungs, heart, brain, liver, skeletal muscle, kidney, pancreas, and placenta as a 2-kb message. PCOLCE2, a 52-kDa protein, is expressed in the trabecular meshwork. A novel gene, PCOLCE2, has been identified and characterized. Based upon its homology with collagen-binding proteins, its expression in the trabecular meshwork, and its chromosome location, PCOLCE2 is a candidate gene for GLC1C. However, no coding sequence mutations were detected in PCOLCE2 in a POAG patient from the GLC1C family. (C) 2000 Academic Press.
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U2 - 10.1006/geno.2000.6229
DO - 10.1006/geno.2000.6229
M3 - Article
C2 - 10873381
AN - SCOPUS:0034659198
SN - 0888-7543
VL - 66
SP - 264
EP - 273
JO - Genomics
JF - Genomics
IS - 3
ER -