DISEASES

Disease-gene associations mined from literature

Literature associating ATL1 and MASA syndrome

ATL1 [ENSP00000351155]

Guanine nucleotide-binding protein 3; GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development; Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.

Synonyms:  ATL1,  ATL1p,  hATL1,  G3V321,  G3V334 ...

Linkouts:  STRING  Pharos  UniProt  OMIM