Ocular Albinism Type 1 - Mutations

Mutations

The OA1 mutants were classified into two major groups based on glycosylation and localization patterns. While group I consisted of normally glycosylated OA1, group II represented aberrantly glycosylated OA1 which is indistinguishable from the wild type. However, both these studies revealed that in >60% of these mutations, the protein was retained in the ER and which is assumed to be the major cause of OA1. They also revealed that the protein levels decreased drastically, probably due to misfolding of the protein in the ER. Some of the mutations reported in second and third cytoplasmic loops (these regions are known to be critical for GPCR downstream signaling) are believed to affect transduction of the signals from OA1 via G proteins.