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LETM1

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]
Protein class

Human disease related genes, Transporters

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Distal enterocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Homohexamer (By similarity). Can form 2 complexes: a major (300 kDa) and a minor complex (500-600 kDa) (PubMed:18628306). Interacts with BCS1L (PubMed:18628306).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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