DISEASES

Disease-gene associations mined from literature

Literature associating TARDBP and amyotrophic lateral sclerosis type 11

TARDBP [ENSP00000240185]

TAR DNA-binding protein 43; DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR.

Synonyms:  TARDBP,  A0A024R4E2,  B1AKP7,  G3V162,  K7EJ99 ...

Linkouts:  STRING  Pharos  UniProt  OMIM