LETM1
Sign in to saveAlso known as leucine zipper and EF-hand containing transmembrane protein 1, SLC55A1
Leucine zipper-EF-hand containing transmembrane protein 1 is a protein that in humans is encoded by the LETM1 gene.
Gene data
LETM1- Name
- leucine zipper and EF-hand containing transmembrane protein 1
- Type
- protein-coding
- Position
- 1,811,479–1,856,232 (−)
- Aliases
- CONDMIM, KHE, Mdm38, SLC55A1
- Ensembl
- ENSG00000168924
- RefSeq RNA
- NM_012318.3, XM_006713884.2, XM_047415673.1, XM_054349978.1, XM_054349979.1
- RefSeq protein
- NP_036450.1, XP_006713947.1, XP_047271629.1, XP_054205953.1, XP_054205954.1
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 Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
leucine zipper and EF-hand containing transmembrane protein 1
- Symbol
- LETM1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 4:1,811,479-1,856,244
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 56320
- genomic end
- 1856156
- exact match
- identifiers.org/ncbigene/3954
- genomic start
- 1813206
- cytogenetic location
- 4p16.3
Sources (3)
via Wikidata · CC0
~1 min read
Article
6 sectionsContents
- Structure
- Function
- Clinical significance
- See also
- References
- Further reading
Leucine zipper-EF-hand containing transmembrane protein 1 is a protein that in humans is encoded by the LETM1 gene.
== Structure ==