DISEASES

Disease-gene associations mined from literature

Literature associating RT14 and amino acid metabolic disorder

RT14 [ENSP00000447650]

Biogenesis of lysosome-related organelles complex 1 subunit 1; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor; Belongs to the BLOC1S1 family.

Synonyms:  BLOC1S1-001,  BLOC1S1-002,  BLOC1S1-003,  BLOC1S1-004,  F8VNQ1 ...

Linkouts:  STRING  Pharos  UniProt #1 #2