Disease-gene associations mined from literature

Literature associating LETM1 and Wolf-Hirschhorn syndrome

LETM1 [ENSP00000305653]

Leucine zipper-EF-hand containing transmembrane protein 1; 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,  D3DVQ1,  O95202 ...

Linkouts:  STRING  Pharos  UniProt  OMIM