| TOMM40 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TOMM40 , C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40, translocase of outer mitochondrial membrane 40 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608061 MGI: 1858259 HomoloGene: 101105 GeneCards: TOMM40 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial import receptor subunit TOM40 homolog is a protein which in humans is encoded by the TOMM40 gene. [5] [6]
TOMM40 codes for a protein that is embedded into outer membranes of mitochondria and is required for the movement of proteins into mitochondria. More precisely, TOMM40 is the channel-forming subunit of the translocase of the outer membrane (TOM) complex, a translocase of the outer mitochondrial membrane that is essential for protein transport into the mitochondrion. [7]
Certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease. [8] [9] One study has found that TOMM40 risk alleles appear twice as often in people with Alzheimer's disease than those without it. [10] Because TOMM40 is located on chromosome 19, and is closely adjacent to APOE , [6] another gene known to be associated with Alzheimer's, another study has suggested that the statistically significant correlation of TOMM40 with Alzheimer's is due to linkage disequilibrium. [11] [12]
Mitochondrial membrane transport proteins, also known as mitochondrial carrier proteins, are proteins which exist in the membranes of mitochondria. They serve to transport molecules and other factors, such as ions, into or out of the organelles. Mitochondria contain both an inner and outer membrane, separated by the inter-membrane space, or inner boundary membrane. The outer membrane is porous, whereas the inner membrane restricts the movement of all molecules. The two membranes also vary in membrane potential and pH. These factors play a role in the function of mitochondrial membrane transport proteins. There are 53 discovered human mitochondrial membrane transporters, with many others that are known to still need discovered.
DnaJ homolog subfamily A member 3, mitochondrial, also known as Tumorous imaginal disc 1 (TID1), is a protein that in humans is encoded by the DNAJA3 gene on chromosome 16. This protein belongs to the DNAJ/Hsp40 protein family, which is known for binding and activating Hsp70 chaperone proteins to perform protein folding, degradation, and complex assembly. As a mitochondrial protein, it is involved in maintaining membrane potential and mitochondrial DNA (mtDNA) integrity, as well as cellular processes such as cell movement, growth, and death. Furthermore, it is associated with a broad range of diseases, including neurodegenerative diseases, inflammatory diseases, and cancers.
Mitochondrial import inner membrane translocase subunit Tim8 A, also known as deafness-dystonia peptide or protein is an enzyme that in humans is encoded by the TIMM8A gene. This translocase has similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in deafness-dystonia syndrome and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system.
Chloride intracellular channel 4, also known as CLIC4,p644H1,HuH1, is a eukaryotic gene.
Mitochondrial import receptor subunit TOM20 homolog is a protein that in humans is encoded by the TOMM20 gene. TOM20 is one of the receptor systems of the translocase of the outer membrane (TOM) complex in the outer mitochondrial membrane.
Mitochondrial import receptor subunit TOM22 homolog(hTom22) is a protein that in humans is encoded by the TOMM22 gene.
Mitochondrial import receptor subunit TOM34 is a protein that in humans is encoded by the TOMM34 gene.
The translocase of the outer membrane (TOM) is a complex of proteins found in the outer mitochondrial membrane of the mitochondria. It allows movement of proteins through this barrier and into the intermembrane space of the mitochondrion. Most of the proteins needed for mitochondrial function are encoded by the nucleus of the cell. The outer membrane of the mitochondrion is impermeable to large molecules greater than 5000 daltons. The TOM works in conjunction with the translocase of the inner membrane (TIM) to translocate proteins into the mitochondrion. Many of the proteins in the TOM complex, such as TOMM22, were first identified in Neurospora crassa and Saccharomyces cerevisiae. Many of the genes encoding these proteins are designated as TOMM (translocase of the outer mitochondrial membrane) complex genes.
Mitochondrial import inner membrane translocase subunit Tim10 is an enzyme that in humans is encoded by the TIMM10 gene.
Metaxin 1, also known as MTX1, is a protein which in humans is encoded by the MTX1 gene.
Mitochondrial carrier homolog 1 (MTCH1), also referred to as presenilin 1-associated protein (PSAP), is a protein that in humans is encoded by the MTCH1 gene on chromosome 6. MTCH1 is a proapoptotic mitochondrial protein potentially involved in Alzheimer's disease (AD).
Mitochondrial import inner membrane translocase subunit TIM44 is an enzyme that in humans is encoded by the TIMM44 gene.
Mitochondrial import inner membrane translocase subunit Tim9 B is an enzyme that in humans is encoded by the FXC1 gene.
Mitochondrial import receptor subunit TOM70, also known as translocase of outer mitochondrial membrane protein 70 is a protein that in humans is encoded by the TOMM70 gene.
Mitochondrial import inner membrane translocase subunit Tim23 is an enzyme that in humans is encoded by the TIMM23 gene.
Mitochondrial import inner membrane translocase subunit Tim17-A is an enzyme that in humans is encoded by the TIMM17A gene.
Mitochondrial import inner membrane translocase subunit Tim9 is an enzyme that in humans is encoded by the TIMM9 gene.
Mitochondrial import inner membrane translocase subunit Tim22 is an enzyme that in humans is encoded by the TIMM22 gene.
Ankyrin-3 (ANK-3), also known as ankyrin-G, is a protein from ankyrin family that in humans is encoded by the ANK3 gene.
ADP/ATP translocase 3, also known as solute carrier family 25 member 6, is a protein that in humans is encoded by the SLC25A6 gene.
 | This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. |
