Translocase of outer mitochondrial membrane 40 homolog (yeast), also known as TOMM40, is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...

which in humans is encoded by the ''TOMM40''

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

Function

''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 a translocase of the mitochondrial outer membrane ( TOM) that is essential for protein transport into mitochondria.

Clinical significance

In humans, certain

alleles An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chro ...

of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease.; One study has found that TOMM40 risk alleles appears twice as often in people with Alzheimer's disease than those without it. Because ''TOMM40'' is located on

chromosome 19 Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the building material of DNA. It is considered the most gene-rich chromosom ...

, and is closely adjacent to ''

APOE Apolipoprotein E (APOE) is a protein involved in the metabolism of fats in the body of mammals. A subtype is implicated in Alzheimer's disease and cardiovascular disease. APOE belongs to a family of fat-binding proteins called apolipoproteins. ...

'', 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 In population genetics, linkage disequilibrium (LD) is the non-random association of alleles at different loci in a given population. Loci are said to be in linkage disequilibrium when the frequency of association of their different alleles is h ...

Function

Clinical significance

See also

References

Further reading