DISEASES

Disease-gene associations mined from literature

Literature associating RSC1A1 and beta-mannosidosis

RSC1A1 [ENSP00000341963]

Regulatory solute carrier protein, family 1, member 1; Mediates transcriptional and post-transcriptional regulation of SLC5A1. Inhibits a dynamin and PKC-dependent exocytotic pathway of SLC5A1. Also involved in transcriptional regulation of SLC22A2. Exhibits glucose-dependent, short-term inhibition of SLC5A1 and SLC22A2 by inhibiting the release of vesicles from the trans-Golgi network.

Synonyms:  RSC1A1,  RSC1A1p,  hRSC1A1,  Q92681,  Q92681p ...

Linkouts:  STRING  Pharos  UniProt  OMIM