Alsin is a protein that in humans is encoded by the ALS2 gene. [5] [6] ALS2 orthologs [7] have been identified in all mammals for which complete genome data are available.
Alsin is a protein that in humans is encoded by the ALS2 gene. [5] [6] ALS2 orthologs [7] have been identified in all mammals for which complete genome data are available.
Primary lateral sclerosis (PLS) is a very rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control.
Progressive bulbar palsy (PBP) is a medical condition. It belongs to a group of disorders known as motor neuron diseases. PBP is a disease that attacks the nerves supplying the bulbar muscles. These disorders are characterized by the degeneration of motor neurons in the cerebral cortex, spinal cord, brain stem, and pyramidal tracts. This specifically involves the glossopharyngeal nerve (IX), vagus nerve (X), and hypoglossal nerve (XII).
Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 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, familial amyotrophic lateral sclerosis and Parkinson's disease.
The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.
Profilin-1 is a protein that in humans is encoded by the PFN1 gene.
Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) also known as Calcium pump 1, is an enzyme that in humans is encoded by the ATP2A1 gene.
Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.
Spartin is a protein that in humans is encoded by the SPG20 gene.
E3 ubiquitin-protein ligase RNF19A is an enzyme that in humans is encoded by the RNF19A gene.
Trafficking kinesin-binding protein 2 is a protein that in humans is encoded by the TRAK2 gene.
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein also known as calcium-response factor (CaRF) is a protein that in humans is encoded by the ALS2CR8 gene.
Ras-associated and pleckstrin homology domains-containing protein 1 is a protein that in humans is encoded by the RAPH1 gene.
AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.
Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.
Partitioning defective 3 homolog B is a protein that in humans is encoded by the PARD3B gene.
Aldehyde oxidase 1 is an enzyme that in humans is encoded by the AOX1 gene.
Interferon kappa, also known as IFN-kappa, is a protein that in humans is encoded by the IFNK gene.
C9orf72 is a protein which in humans is encoded by the gene C9orf72.
Project MinE is an independent large scale whole genome research project that was initiated by 2 patients with amyotrophic lateral sclerosis and started on World ALS Day, June 21, 2013.
There are more than 25 genes known to be associated with amyotrophic lateral sclerosis (ALS) as of June 2018, which collectively account for about 70% of cases of familial ALS (fALS) and 10% of cases of sporadic ALS (sALS). About 5–10% of cases of ALS are directly inherited. Overall, first-degree relatives of an individual with ALS have a 1% risk of developing ALS. ALS has an oligogenic mode of inheritance, meaning that mutations in two or more genes are required to cause disease.
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