DISEASES

Disease-gene associations mined from literature

Literature associating KIAA0226 and lactose intolerance

KIAA0226 [ENSP00000296343]

Run domain Beclin-1-interacting and cysteine-rich domain-containing protein; Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation.

Synonyms:  KIAA0226,  B4DIJ0,  E9PEM3,  H7C3H3,  Q8N4U6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM