DISEASES

Disease-gene associations mined from literature

Literature associating RCN3 and neonatal respiratory failure

RCN3 [ENSP00000270645]

Reticulocalbin-3; Probable molecular chaperone assisting protein biosynthesis and transport in the endoplasmic reticulum (PubMed:16433634, PubMed:28939891). Required for the proper biosynthesis and transport of pulmonary surfactant-associated protein A/SP-A, pulmonary surfactant- associated protein D/SP-D and the lipid transporter ABCA3 (By similarity). By regulating both the proper expression and the degradation through the endoplasmic reticulum-associated protein degradation pathway of these proteins plays a crucial role in pulmonary surfactant homeostasis (By similarity). Has an anti-fibrotic activity by negatively regulating the secretion of type I and type III collagens . This calcium-binding protein also transiently associates with immature PCSK6 and regulates its secretion ; Belongs to the CREC family.

Synonyms:  RCN3,  RCN3p,  hRCN3,  M0QYB8,  M0QZH0 ...

Linkouts:  STRING  Pharos  UniProt