CEP290

Synonym(s): KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3

Locus: 12q21.33

Protein: Centrosomal protein of 290 kDa

Disorder(s):

• CEP290-Related Joubert Syndrome
• CEP290-Related Leber Congenital Amaurosis
• Senior-Loken Syndrome 6
• CEP290-Related Meckel Syndrome
• CEP290-Related Bardet-Biedl Syndrome