retinitis pigmentosa type 17 (RP17)

Genetics

• autosomal dominant
• associated with defects in carbonic anhydrase-4 & its activation of SLC4A4

More general terms

• retinitis pigmentosa (RP)

Additional terms

• U4/U6 small nuclear ribonucleoprotein Prp31 (pre-mRNA splicing factor 31, U4/U6 snRNP 61 kD protein, hPrp31, serologically defined breast cancer antigen NY-BR-99, PRPF31, PRP31)

Database

• OMIM: https://mirror.omim.org/entry/600852