Primary Identifier | IPR028092 | Type | Family |
Short Name | RD3 |
description | In humans, Retinal degeneration protein 3 (RD3) is found preferentially expressed in the retina []. Mutations in RD3 causes Leber Congenital Amaurosis type 12 ,which is a severe dystrophy of the retina, typically becoming evident in the first years of life []. |