DISEASES

Disease-gene associations mined from literature

Literature associating APBA1 and syndromic X-linked intellectual disability Najm type

APBA1 [ENSP00000265381]

Amyloid beta (A4) precursor protein-binding, family A, member 1; Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP- beta; PDZ domain containing

Synonyms:  APBA1,  APBA1p,  hAPBA1,  APBA1-001,  APBA1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM