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. [provided by RefSeq, Oct 2009].
Function:
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.
Subunit:
Can form 2 complexes: a major (300 kDa) and a minor complex (500-600 kDa). Interacts with BCS1L.
Subcellular Location:
Mitochondrion inner membrane; Single-pass membrane protein.
Similarity:
Contains 1 EF-hand domain.
Contains 1 LETM1 domain.
Database links:
UniProtKB/Swiss-Prot: O95202
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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