DISEASES

Disease-gene associations mined from literature

Literature associating GABARAPL2 and nemaline myopathy 1

GABARAPL2 [ENSP00000037243]

Gamma-aminobutyric acid receptor-associated protein-like 2; Ubiquitin-like modifier involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity). Involved in autophagy. Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation.

Synonyms:  GABARAPL2,  GABARAPL2-001,  GABARAPL2-002,  GABARAPL2-003,  GABARAPL2-004 ...

Linkouts:  STRING  Pharos  UniProt  OMIM