| S.NO | Uniprot ID | Protein Name | Sequence Length | SEC63 Repeats region | Disease |
| 1 | Q9UGP8 | Translocation protein SEC63 homolog | 760 | "DISEASE: Polycystic liver disease 2 with or without kidney cysts (PCLD2) [MIM:617004]: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 2 | O75643 | U5 small nuclear ribonucleoprotein 200 kDa helicase | 2136 | "DISEASE: Retinitis pigmentosa 33 (RP33) [MIM:610359]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations affecting the gene represented in this entry". |