LETM1 Chromosome 4
Leucine zipper and EF-hand containing transmembrane protein 1
Upload your DNA to see your personal genotypes for variants in LETM1.
What This Gene Does
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]
Gene Info
Gene Group
"EF-hand domain containing|Solute carrier family 55, LETM mitochondrial cation/proton exchangers"
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000168924
Associated Conditions (5)
Inborn genetic diseases
LETM1-associated clinical spectrum with predominant nervous system involvement
Neurodegeneration
childhood-onset
with multisystem involvement due to mitochondrial dysfunction
Key Variants
RS750908839
Conflicting classifications of pathogenicity
Health Risk
RS769399334
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2108846393
Likely pathogenic
LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement
Health Risk
RS2108832976
Pathogenic
LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration, childhood-onset
Health Risk
RS2108840447
Pathogenic
LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement
Health Risk
RS2108846252
Pathogenic
LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement
Health Risk
RS2108846420
Pathogenic
LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration, childhood-onset
Health Risk
RS2108847729
Pathogenic
LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement
Health Risk
RS750286012
Pathogenic
LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration, childhood-onset
Health Risk
RS753284434
Pathogenic
LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration, childhood-onset
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS750908839 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769399334 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2108846393 | Health Risk | Likely pathogenic | LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement |
| RS2108832976 | Health Risk | Pathogenic | LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration, childhood-onset |
| RS2108840447 | Health Risk | Pathogenic | LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement |
| RS2108846252 | Health Risk | Pathogenic | LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement |
| RS2108846420 | Health Risk | Pathogenic | LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration, childhood-onset |
| RS2108847729 | Health Risk | Pathogenic | LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement |
| RS750286012 | Health Risk | Pathogenic | LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration, childhood-onset |
| RS753284434 | Health Risk | Pathogenic | LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration, childhood-onset |