DISEASES

Disease-gene associations mined from literature

Literature associating SEC63 and polycystic kidney disease 1

SEC63 [ENSP00000357998]

Translocation protein SEC63 homolog; Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER) . Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen . Required for efficient PKD1/Polycystin- 1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).

Synonyms:  SEC63,  SEC63p,  hSEC63,  A0A0S2Z5M1,  A6PVC9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM