DISEASES

Disease-gene associations mined from literature

Literature associating SRSF6 and aromatic L-amino acid decarboxylase deficiency

SRSF6 [ENSP00000244020]

Splicing factor, arginine/serine-rich 6; Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing; Belongs to the splicing factor SR family.

Synonyms:  SRSF6,  SRSF6p,  hSRSF6,  Q13247,  Q13247p ...

Linkouts:  STRING  Pharos  UniProt  OMIM