DISEASES

Disease-gene associations mined from literature

Literature associating BNIP1 and hypertrophic pyloric stenosis

BNIP1 [ENSP00000231668]

Vesicle transport protein SEC20; As part of a SNARE complex may be involved in endoplasmic reticulum membranes fusion and be required for the maintenance of endoplasmic reticulum organization . Plays also a role in apoptosis . It is for instance required for endoplasmic reticulum stress-induced apoptosis . As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy (Probable).

Synonyms:  BNIP1,  BNIP1p,  hBNIP1,  H0YBK7,  Q12981 ...

Linkouts:  STRING  Pharos  UniProt  OMIM