GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSEMA6A
Other namesVIA; SEMA; HT018; SEMAQ; SEMA6A1; KIAA1368; SEMA6A
Gene namesema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
Gene inheritanceSALS genes
Discovery methodGWAS
Category 
Chromosome5q23.1
GRCh37 (hg19)Chr5:115779251-115910551 ( -)
GRCh38 (hg38)Chr5:116443555-116574855(-)
Background 
Result 
Mutations0
Patients0

BIOINFORMATICS

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Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB ALS Data Browser

ANIMAL MODELS

                               

KEY PUBLICATIONS (1)

First_AuthorYearTitlePaper
Landers2009Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosisFull_Paper

GENETIC VARIATIONS

SNP (rs)BasepairpvalueAuthorYearTermPaper
 77020571157278388E-06Landers2009GRCh37Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis