Gene
LETM1
leucine zipper and EF-hand containing transmembrane protein 1
- HGNC 6556↗(opens in a new tab)
- Ensembl gene ENSG00000168924↗(opens in a new tab)
- NCBI Gene 3954↗(opens in a new tab)
Summary
- Cytogenetic location
- 4p16.3
- Coordinates
- Chromosome 4: 1,811,479–1,856,156 (GRCh38)
- Exons
- 14 exons across 44.7 kb
- Protein
- 739 amino acids
- Also known as
- SLC55A1, Mdm38
- MANE Select transcript
- ENST00000302787.3NM_012318.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
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No Genome Test report reads LETM1 yet. The test sequences your whole genome, so your data includes it all the same.
How LETM1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.4 kb of the gene's 44.7 kb; 2,220 of those bases code for the protein.
Sequencing LETM1
18Moderate
How hard LETM1 is to sequence with short reads, out of 100Each bar is the share of LETM1's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.2%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.50%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.6.3%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.13%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
3
positions in LETM1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 44.7 kb of LETM1, introns included, not only the 5.4 kb of exons.
Traits linked to LETM1
The Human Phenotype Ontology lists these as features of the rare conditions LETM1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormal lip
- Abnormality of the mouth
- Abnormality of the philtrum
- Abnormally small head
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Eye folds
- Failure of development of between one and six teeth
Show 25 more traits
- Frontal bossing
- High forehead
- High frontal hairline
- Highly arched eyebrow
- Little lower jaw
- Long, narrow head
- Low hairline at back of neck
- Short philtrum
- Wide nasal bridge
- Abnormality of craniofacial shape
- Beaked nose
- Cleft of the mouth
- Cleft upper lip
- Cranial defect
- Delayed eruption of teeth
- Pit in front of the ear
- Prominent area between the eyebrows
- Short upper lip
- Skin tag in front of the ear
- Taurodontia
- Cleft palate
- High palate
- Long face
- Narrow forehead
- Webbed neck
Abnormality of the nervous system
- Ataxia
- EEG abnormality
- Epilepsy
- Global developmental delay
- Intellectual disability
- Intellectual disability, severe
- Babinski sign
- Brisk reflexes
Show 19 more traits
- Cerebellar vermis hypoplasia
- Difficulty sleeping
- Hyperactive movements
- Inability to coordinate movements when walking
- Loss of ability to walk
- Loss of developmental milestones
- Morphological central nervous system abnormality
- Peripheral neuropathy
- Repetitive movements
- Tethered cord
- Abnormality of movement
- Absent/small cerebellum
- Agenesis of corpus callosum
- Degeneration of cerebellum
- Too much cerebrospinal fluid in the brain
- Absent septum pellucidum
- Cavum septum pellucidum
- Periventricular cysts
- Ventriculomegaly
Abnormality of the ear
- Ears rotated toward back of head
- Small ears
- Abnormally shaped ears
- Bilateral sensorineural hearing impairment
- Conductive deafness
- Hearing impairment
- Narrow ear canal
- Chronic infections of the middle ear
Show 2 more traits
Abnormality of the cardiovascular system
- Abnormal cardiac septum morphology
- Abnormal cardiovascular system morphology
- Abnormal heart valve morphology
- An opening in the wall separating the top two chambers of the heart
- Disease of the heart muscle
- Strawberry mark
- Fluid around heart
- Accessory spleen
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). LETM1 gene: leucine zipper and EF-hand containing transmembrane protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/letm1
Dante Labs. LETM1 gene: leucine zipper and EF-hand containing transmembrane protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/letm1
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