DISEASES

Disease-gene associations mined from literature

Literature on QKI

QKI [ENSP00000355094]

Protein quaking; RNA-binding protein that plays a central role in myelinization . Binds to the 5'-NACUAAY-N(1,20)-UAAY- 3' RNA core sequence. Regulates target mRNA stability . In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia . Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity).

Synonyms:  QKI,  F5GXS8,  F5GYM3,  F5GYT7,  F5H5U6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM