ALS2

Function

May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).

Involvement in disease

Amyotrophic lateral sclerosis 2

ALS2

A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

None

The disease is caused by variants affecting the gene represented in this entry.

Juvenile primary lateral sclerosis

JPLS

A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected.

None

The disease is caused by variants affecting the gene represented in this entry.

Infantile-onset ascending spastic paralysis

IAHSP

Characterized by progressive spasticity and weakness of limbs.

None

The disease is caused by variants affecting the gene represented in this entry.

Alternative names

ALS2CR6, KIAA1563, ALS2, Alsin, Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein, Amyotrophic lateral sclerosis 2 protein

Database links

swissprot:Q96Q42 genbank:NM_020919 omim:606352 entrezGene:57679