Gene Report

Basic Info
Approved Symbol |
SEPT5
|
Previous Symbol |
PNUTL1 |
Symbol Alias |
HCDCREL-1, H5 |
Approved Name |
septin 5 |
Previous Name |
peanut-like 1 (Drosophila) |
Location |
22q11.2 |
Position |
chr22:19701987-19712297, + |
External Links |
HGNC: 9164
Entrez Gene: 5413
Ensembl: ENSG00000184702
UCSC: uc002zpv.1
|
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: 2)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 13)

Gene related KEGG pathways (count: 1)
ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
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 SEPT5 (count: 3)

Genes shared at least 2 KEGG pathways with SEPT5 (count: 0)

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