ALSoD: Amyotrophic Lateral Sclerosis Online Genetics Database

ALS ONLINE GENETICS DATABASE

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Gene	FIG4
Other names	SAC3; ALS11; CMT4J; hSac3; KIAA0274; dJ249I4.1; RP1-249I4.1; FIG4
Gene name	SAC domain-containing protein gene family
Gene inheritance category	FALS genes found in SALS
Category	CELL DEATH
Chromosome	6q21
Background	Because mutation of FIG4 affects motor-neuron function in humans and mice, we tested FIG4 as a candidate gene for ALS
Result	Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P2 are responsible for the recessive peripheral-nerve disorder CMT4J
Total Mutations	10
Total Affected	9

FALS	SALS	Male	Female	Bulbar	Limb	No data	Mean age onset	N
3	6	5	4	5	4	0	55	9

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First_Author	Year	Title	Paper
Chow	2009	Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS	Full_Paper

SNP (rs)	Author	Year	Term	Paper
2273752	Chow	2009	GRCh37	Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
57291908	Chow	2009	GRCh37	Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
9320315	Chow	2009	GRCh37	Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
9885672	Chow	2009	GRCh37	Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
9398218	Chow	2009	GRCh37	Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
106599	Chow	2009	GRCh37	Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
10499054	Chow	2009	GRCh37	Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS