DISEASES

Disease-gene associations mined from literature

Literature associating BAIAP3 and optic atrophy 8

BAIAP3 [ENSP00000324510]

BAI1-associated protein 3; Functions in endosome to Golgi retrograde transport. In response to calcium influx, may interact with SNARE fusion receptors and membrane phospholipids to mediate endosome fusion with the trans- Golgi network. By promoting the recycling of secretory vesicle transmembrane proteins, it indirectly controls dense-core secretory vesicle biogenesis, maturation and their ability to mediate the constitutive and regulated secretion of neurotransmitters and hormones. May regulate behavior and food intake by controlling calcium-stimulated exocytosis of neurotransmitters including NPY and serotonin and hormones like insulin . Proposed to play a role in hypothalamic neuronal firing by modulating gamma-aminobutyric acid (GABA)ergic inhibitory neurotransmission (By similarity).

Synonyms:  BAIAP3,  BAIAP3p,  hBAIAP3,  H3BPP9,  H3BV46 ...

Linkouts:  STRING  Pharos  UniProt  OMIM