DISEASES

Disease-gene associations mined from literature

Literature associating HYPK and early infantile epileptic encephalopathy 1

HYPK [ENSP00000384474]

Huntingtin interacting protein K; Has a chaperone-like activity preventing polyglutamine (polyQ) aggregation of HTT. Protects against HTT polyQ-mediated apoptosis in Neuro2a neuronal cells. Required for optimal NAA10- NAA15 complex-mediated N-terminal acetylation.

Synonyms:  HYPK,  A0A024R5Q1,  J3QT56,  Q9NX55,  C15orf63 ...

Linkouts:  STRING  Pharos  UniProt