Family

Retinal degeneration protein 3 (IPR028092)

Short name: RD3

Family relationships

None.

Description

In humans, Retinal degeneration protein 3 (RD3) is found preferentially expressed in the retina [PMID: 12914764]. 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 [PMID: 17186464].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
ProDom
Pfam