LETM1 (leucine zipper and EF-hand containing transmembrane protein 1)
| Gene | |
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3954 |
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Leucine zipper and EF-hand containing transmembrane protein 1 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
LETM1 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CONDMIM, KHE, Mdm38, SLC55A1 |
|
Chromosome
Chromosome number
|
4 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
4p16.3 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
|
miRNA
miRNA information provided by mirtarbase database.
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|||||||
|
|||||||
| Protein | |||||||||||
| UniProt ID | O95202 | ||||||||||
| Protein name | Mitochondrial proton/calcium exchanger protein (Electroneutral mitochondrial K(+)/H(+)exchanger) (KHE) (Leucine zipper-EF-hand-containing transmembrane protein 1) | ||||||||||
| Protein function | Plays an important role in maintenance of mitochondrial morphology and in mediating either calcium or potassium/proton antiport (PubMed:18628306, PubMed:19797662, PubMed:24344246, PubMed:24898248, PubMed:29123128, PubMed:32139798, PubMed:3605521 | ||||||||||
| PDB | 9BA1 | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Sequence |
|
||||||||||
| Sequence length | 739 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
|
|||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||