DISEASES

Disease-gene associations mined from literature

Literature associating TOR1AIP1 and autosomal recessive limb-girdle muscular dystrophy type 2X

TOR1AIP1 [ENSP00000435365]

Torsin-1A-interacting protein 1; Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.

Synonyms:  TOR1AIP1,  H0YDU3,  J3KN66,  Q5JTV8,  H0YDU3p ...

Linkouts:  STRING  Pharos  UniProt