Gene Report
Basic Info
| Approved Symbol |
NDUFA4L2
|
| Symbol Alias |
NUOMS, FLJ26118 |
| Approved Name |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 |
| Location |
12q13.3 |
| Position |
chr12:57628686-57634545, - |
| External Links |
HGNC: 29836
Entrez Gene: 56901
Ensembl: ENSG00000185633
UCSC: uc001sno.2
|
| No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
| Source |
Mapped by CNV |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 1)
Gene related other variant (count: 0)
Gene related regions (count: 0)
Gene related GO terms (count: 0)
Gene related KEGG pathways (count: 5)
| ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
| hsa05010 |
Alzheimer's disease |
40 |
Alzheimer's disease (AD) is a chronic disorder that slowly d......
Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress.
More...
|
| hsa01100 |
Metabolic pathways |
237 |
|
| hsa00190 |
Oxidative phosphorylation |
20 |
|
| hsa05016 |
Huntington's disease |
28 |
Huntington disease (HD) is an autosomal-dominant neurodegene......
Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction.
More...
|
| hsa05012 |
Parkinson's disease |
22 |
Parkinson's disease (PD) is a progressive neurodegenerative ......
Parkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL1 (a ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. These pathogenic mutations are associated with disease through pathogenic pathways that may commonly lead proteasome dysfunction, mitochondrial impairment, and oxidative stress. Point mutations in alpha-synuclein lead to excessive intracellular accumulation and protofibril formation. Decrease in the amount of soluble alpha-synuclein tends to increase free cytoplasmic dopamine and the formation of reactive oxygen species (ROS). Modification of parkin and UCHL1 are associated with the ubiquitin-proteasome system pathway and may increase proteotoxic stress. Mutations in parkin, DJ1, and PINK1 may alter mitochondiral activity, potentially impairing proteasomal function. Environmental toxins such as N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and rotenone can cause mitochondrial dysfunction and oxidative stress.
More...
|
Genes shared at least 5 GO terms with NDUFA4L2 (count: 0)
Genes shared at least 2 KEGG pathways with NDUFA4L2 (count: 28)
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