Leucine zipper-EF-hand containing transmembrane protein 1 is a protein that in humans is encoded by the LETM1 gene. [5]
Leucine zipper-EF-hand containing transmembrane protein 1 is a protein that in humans is encoded by the LETM1 gene. [5]
The LETM1 protein has a transmembrane domain and a casein kinase 2 and protein kinase C phosphorylation site. [6] The LETM1 gene is expressed in the mitochondria of many eukaryotes indicating that this is a conserved mitochondrial protein. [7]
LETM1 is a eukaryotic protein that is expressed in the inner membrane of mitochondria. Experiments performed with human cells have been interpreted to indicate that it functions as a component of a Ca2+/H+ antiporter. [8] Experimental results with yeast cells have been interpreted as suggesting that LETM1 functions as a component of a K+/H+ antiporter. [9] The Drosophila melanogaster LETM1 protein has been shown to functionally substitute for the K+/H+ antiporter function in yeast cells. [10]
Deletion of LETM1 is thought to be involved in the development of Wolf–Hirschhorn syndrome in humans. [6]
Succinate dehydrogenase complex subunit C, also known as succinate dehydrogenase cytochrome b560 subunit, mitochondrial, is a protein that in humans is encoded by the SDHC gene. This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with pheochromocytomas and paragangliomas. Alternatively spliced transcript variants have been described.
Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 159 million base pairs and represents between 5 and 5.5 percent of the total DNA in cells.
DNA polymerase subunit gamma is an enzyme that in humans is encoded by the POLG gene. Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE).
MAX-interacting protein 1 is a protein that in humans is encoded by the MXI1 gene.
Transcription regulator protein BACH1 is a protein that in humans is encoded by the BACH1 gene.
Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the WHSC1 gene.
Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.
Negative elongation factor A is a protein that in humans is encoded by the WHSC2 gene.
Mitogen-activated protein kinase 12 is an enzyme that in humans is encoded by the MAP3K12 gene.
TSC22 domain family protein 3 is a protein that in humans is encoded by the TSC22D3 gene.
Max-like protein X is a protein that in humans is encoded by the MLX gene.
Protein AF-10 is a protein that in humans is encoded by the MLLT10 gene.
Carbohydrate-responsive element-binding protein (ChREBP) also known as MLX-interacting protein-like (MLXIPL) is a protein that in humans is encoded by the MLXIPL gene. The protein name derives from the protein's interaction with carbohydrate response element sequences of DNA.
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 is a protein that in humans is encoded by the NDUFA2 gene. The NDUFA2 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in the NDUFA2 gene are associated with Leigh's syndrome.
Phosphoprotein associated with glycosphingolipid-enriched microdomains 1 is a protein that in humans is encoded by the PAG1 gene.
Calcium-binding mitochondrial carrier protein Aralar1 is a protein that in humans is encoded by the SLC25A12 gene. Aralar is an integral membrane protein located in the inner mitochondrial membrane. Its primary function as an antiporter is the transport of cytoplasmic glutamate with mitochondrial aspartate across the inner mitochondrial membrane, dependent on the binding of one calcium ion. Mutations in this gene cause early infantile epileptic encephalopathy 39 (EIEE39), symptomized by global hypomyelination of the central nervous system, refractory seizures, and neurodevelopmental impairment. This gene has connections to autism.
Mitogen-activated protein kinase kinase kinase 13 is an enzyme that in humans is encoded by the MAP3K13 gene.
Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.
LETM1-like is a family of evolutionarily related proteins.
Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes typically involve larger deletions that are visible using karyotyping techniques. Smaller deletions result in Microdeletion syndrome, which are detected using fluorescence in situ hybridization (FISH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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