Disease-gene associations mined from literature

Literature associating TNPO3 and autosomal recessive limb-girdle muscular dystrophy type 2Q

TNPO3 [ENSP00000265388]

Transportin-SR; Seems to function in nuclear protein import as nuclear transport receptor. In vitro, mediates the nuclear import of splicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizing phosphorylated RS domains; Armadillo-like helical domain containing

Synonyms:  TNPO3,  TNPO3p,  hTNPO3,  A0A024R794,  B3KMX1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM