Heterozygous variants c.781G>A and c.1066dup of serine protease 56 cause familial nanophthalmos by impairing serine-type endopeptidase activity.

Wei WuJingjie XuHoufa YinChenxi FuPanpan Ye Xiangjun Chen

Published in: The British journal of ophthalmology (2022)

might negatively affect protein structures, subcellular localisation, serine-type endopeptidase activity and cellular migratory ability. Together, these changes could lead to the development of nanophthalmos. This study identifies the PRSS56 gene as a potential target for nanophthalmos diagnosis and treatment.

Keyphrases

protein kinase
copy number
genome wide
early onset
protein protein
dna methylation
gene expression
small molecule
genome wide identification
transcription factor