DISEASES

Disease-gene associations mined from literature

Literature associating GABARAP and syndromic X-linked intellectual disability Cabezas type

GABARAP [ENSP00000306866]

Gamma-aminobutyric acid receptor-associated protein; Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton. Involved in apoptosis. Involved in autophagy. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation . Through its interaction with the reticulophagy receptor TEX264, paticipates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover ; Belongs to the ATG8 family.

Synonyms:  GABARAP,  H6UMI1,  I3L236,  I3L3J4,  O95166 ...

Linkouts:  STRING  Pharos  UniProt  OMIM