| Symbol
| TOMM40
| contributors: mct/npt - updated : 21-08-2015
|
| HGNC name
| translocase of outer mitochondrial membrane 40 homolog (yeast)
|
| HGNC id
| 18001
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --low
|
|
found in Huntington disease patients relative to the controls  | |
| Susceptibility
|
to late-onset Alzheimer disease (LOAD) to amnestic mild cognitive impairment |
| Variant & Polymorphism
other
| risk alleles were approximately twice as frequent in AD subjects with hippocampal atrophy as controls (Potkin 2009) |
|
TOMM40 rs157581 polymorphism may modulate regional spontaneous brain activity and related to the progression of amnestic mild cognitive impairment (aMCI) |
| 
|
Candidate gene
| Marker
| TOMM40 downregulation, found in the brain in severe AD may be a potential marker for AD, disease severity or progression | Therapy target
|
| | |