DISEASES

Disease-gene associations mined from literature

Literature associating ATAD1 and inclusion body myopathy with Paget disease of bone and frontotemporal dementia

ATAD1 [ENSP00000339017]

ATPase family AAA domain-containing protein 1; ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity).

Synonyms:  ATAD1,  ATAD1p,  hATAD1,  Q8NBU5,  Q8NBU5p ...

Linkouts:  STRING  Pharos  UniProt