DISEASES

Disease-gene associations mined from literature

Literature associating LETM1 and Bjornstad syndrome

LETM1 [ENSP00000305653]

Mitochondrial proton/calcium exchanger protein; Mitochondrial proton/calcium antiporter that mediates proton- dependent calcium efflux from mitochondrion . Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain . Required for the maintenance of the tubular shape and cristae organization . In contrast to SLC8B1/NCLX, does not constitute the major factor for mitochondrial calcium extrusion ; Belongs to the LETM1 family.

Synonyms:  LETM1,  LETM1p,  hLETM1,  O95202,  O95202p ...

Linkouts:  STRING  Pharos  UniProt  OMIM