ALSoD: Amyotrophic Lateral Sclerosis Online Genetics Database

ALS ONLINE GENETICS DATABASE

You are here ==> Home --> Gene Overview

Click here to switch back to mobile view

Submit gene, mutation and patient data now

If you wish to contribute data you must REGISTER

ALSoD is a joint project of World Federation of Neurology and European Network to Cure ALS

ALSoD is funded by

Since 03/01/09
Viewed 735914 times,
Visited by
43099
Unique Users
You are accessing from
UNITED STATES
Last Update
16th May 2013

Gene	SMN1
Other names	SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; T-BCD541
Gene name	survival of motor neuron 1, telomeric
Gene inheritance category	SALS genes
Category	ALTERED DNA/RNA PROCESSING
Chromosome	5q13.2
Background	Deletions and mutations of SMN genes cause spinal muscular atrophy
Result	SMN genotypes which reduce SMN protein levels associated with sporadic ALS
Total Mutations	0
Total Affected	0

iHop Pathway GeneTest ALS review

GeneMANIA AmiGO Gene Wiki Wolfram Alpha Ensembl NCBI WikiGenes Life Science DB(Japan) ALSGene GeneNetwork

First_Author	Year	Title	Paper
Corcia	2002	Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis	Full_Paper
Corcia	2002	SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist	Full_Paper
Corcia	2006	SMN1 gene, but not SMN2, is a risk factor for sporadic ALS	Full_Paper
Veldink	2001	Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS	Full_Paper
Veldink	2005	SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS	Full_Paper
Zou	2007	SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity	Full_Paper

Basepair	pvalue	Author	Year	Term	Paper
		Corcia	2002	GRCh37	SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist
70241893		Corcia	2006	GRCh37	SMN1 gene, but not SMN2, is a risk factor for sporadic ALS
70241893		Veldink	2001	GRCh37	Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
70241893	0.05	Veldink	2005	GRCh37	SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS
70241893	0.4	Veldink	2005	GRCh37	SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS
70241893	0.99	Veldink	2005	GRCh37	SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS