LETM1 Summary

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]

LETM1 Details

Gene Symbol : LETM1

Gene Name : Leucine zipper and EF-hand containing transmembrane protein 1

Chromosome : CHR 4: 185,624,6-181,147,8

Locus : 4p16.3

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TSC22D1 Summary

This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

TSC22D1 Details

Gene Symbol : TSC22D1

Gene Name : TSC22 domain family member 1

Chromosome : CHR 13: 445,765,64-444,321,42

Locus : 13q14.11

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