LETM1 leucine zipper and EF-hand containing transmembrane protein 1

Gene ID: 3954, updated on 5-Jan-2025
Gene type: protein coding
Also known as: KHE; Mdm38; CONDMIM; SLC55A1

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
4p partial monosomy syndrome MedGen: C1956097OMIM: 194190GeneReviews: Not available	See labs
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction MedGen: C5774240OMIM: 620089GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-02-03) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-02-03) ClinGen Genome Curation Page

Genomic context

Location:: 4p16.3

Sequence:: Chromosome: 4; NC_000004.12 (1811479..1856156, complement)

Total number of exons:: 15

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for LETM1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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