What is the SOD1 gene?

The SOD1 gene provides instructions for making an enzyme called superoxide dismutase, which is abundant in cells throughout the body. This enzyme attaches (binds) to molecules of copper and zinc to break down toxic, charged oxygen molecules called superoxide radicals.

Which chromosome is SOD1 on?

Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or SOD1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis and familial amyotrophic lateral sclerosis.

Where is the SOD1 gene expressed?

cytoplasm
Superoxide dismutase 1 (SOD1) is the ubiquitously expressed and predominant dismutase in the cytoplasm.

How many exons does the SOD1 gene have?

five exons
Mutations of the SOD1 gene, which encodes the enzyme copper/zinc superoxide dismutase, are associated with familial amyotrophic lateral sclerosis (ALS). SOD1 consists of five exons, and over 50 different mutations have been described involving exons 1,2,4 and 5.

What is the function of the SOD1 gene?

Entrez Gene Summary for SOD1 Gene The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body.

What kind of diseases are associated with SOD1?

SOD1 (Superoxide Dismutase 1) is a Protein Coding gene. Diseases associated with SOD1 include Amyotrophic Lateral Sclerosis 1 and Motor Neuron Disease. Among its related pathways are Prion diseases and Amyotrophic lateral sclerosis (ALS).

How long does it take for a SOD1 mutation to occur?

H46R causes a profound loss of copper binding in the active site of SOD1, and as such, H46R is enzymatically inactive. The disease course of this mutation is extremely long, with the typical time from onset to death being over 15 years.

What is the role of SOD1 in amyotrophic lateral sclerosis?

SOD1 in amyotrophic lateral sclerosis development – in silico analysis and molecular dynamics of A4F and A4V variants. Genetic polymorphisms of superoxide dismutase 1 are associated with the serum lipid profiles of Han Chinese adults in a sexually dimorphic manner.