DISEASES

Disease-gene associations mined from literature

Literature associating PTBP3 and prune belly syndrome

PTBP3 [ENSP00000414921]

Polypyrimidine tract-binding protein 3; RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Plays a role in the regulation of cell proliferation, differentiation and migration. Positive regulator of EPO-dependent erythropoiesis. Participates in cell differentiation regulation by repressing tissue-specific exons. Promotes FAS exon 6 skipping. Binds RNA, preferentially to both poly(G) and poly(U).

Synonyms:  PTBP3,  PTBP3p,  hPTBP3,  A0A024R163,  B1ALY4 ...

Linkouts:  STRING  Pharos  UniProt