This report describes amyotrophic lateral sclerosis 11 (ALS11), which is a subtype of amyotrophic lateral sclerosis. It is one of several diseases associated with the human gene FIG4. See the human disease model report for neurodegenerative disease, FIG4-related (FBhh0000336).
Variant(s) implicated in human disease tested (as analogous mutation in fly gene): E58Y in the fly FIG4 gene (corresponds to D53Y in the human FIG4 gene), implicated in ALS11; I46T in the fly FIG4 gene (corresponds to I41T in the human FIG4 gene), implicated in ALS11 and CMT4J.
[updated Jul. 2017 by FlyBase; FBrf0222196]
Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial (Siddique and Deng, 1996, pubmed:8875253). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. [from MIM:105400, 2015.02.11]
[AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11](https://omim.org/entry/612577)
[FIG4 PHOSPHOINOSITIDE 5-PHOSPHATASE; FIG4](https://omim.org/entry/609390)
See general description of amyotrophic lateral sclerosis, above.
ALS11 is an autosomal dominant form of ALS caused by mutation in the FIG4 gene [from MIM:612577; 2016.06.22]
FIG4 Phosphoinositide 5-Phosphatase (FIG4) encodes a protein in the SAC domain-containing protein family; the SAC domain incorporates the phosphoinositide phosphatase activity. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. [from Gene Cards, FIG4; 2016.06.22]
One to one: 1 human to 1 Drosophila.
Ortholog of human FIG4 (1 Drosophila to 1 human). Dmel\FIG4 shares 41% identity and 58% similarity with the human gene.