Recombinant Human Mitochondrial proton/calcium exchanger protein (LETM1), Truncated

Uniprot Id

O95202

Target Species

Human

Target Name

LETM1

Target Full Name

Mitochondrial proton/calcium exchanger protein

Target Function

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.

Target Subcellular Location

Mitochondrion inner membrane; Single-pass membrane protein.

Target Protein Families

LETM1 family

Target Synonyms

LETM1; Mitochondrial proton/calcium exchanger protein; Leucine zipper-EF-hand-containing transmembrane protein 1

Target Background

This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19.