GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneEFEMP1
Other namesDHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; FLJ35535; MGC111353; EFEMP1
Gene nameEGF-containing fibulin-like extracellular matrix protein 1
Gene inheritanceSALS genes
Discovery methodGWAS
Category 
Chromosome2p16.1
GRCh37 (hg19)Chr2:56093097-56151298 ( -)
GRCh38 (hg38)Chr2:55865962-55924163(-)
Background 
Result 
Mutations0
Patients0

BIOINFORMATICS

Entrez Gene  UCSC Browser  Protein Structure  OMIM  Genecards  Full Literature  ProtScale  Sequence    Uniprot
iHop  Pathway  GeneTest  ALS review                  Animal models
GeneMANIA  AmiGO  Gene Wiki  Wolfram Alpha  Ensembl  NCBI  WikiGenes    ALSGene    GeneNetwork
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
 7577894560089041E-08Landers2009GRCh37Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis