DISEASES

Disease-gene associations mined from literature

Literature associating TXNL4A and Treacher Collins syndrome

TXNL4A [ENSP00000269601]

Spliceosomal U5 snRNP-specific 15 kDa protein; Essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly; Belongs to the DIM1 family.

Synonyms:  TXNL4A,  TXNL4Ap,  hTXNL4A,  K7EJU2,  K7EMX5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM