ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
7p22.3
LOCUSID
ALIAS
PPP1R28

Other Information

Locus ID:

NCBI: 392617
MIM: 614964
HGNC: 33154
Ensembl: ENSG00000225968

Variants:

dbSNP: 392617
ClinVar: 392617
TCGA: ENSG00000225968
COSMIC: ELFN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000225968ENST00000424383P0C7U0
ENSG00000225968ENST00000561626P0C7U0

Expression (GTEx)

0
5
10
15

References

Pubmed IDYearTitleCitations
345096752021Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.2
345096752021Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.2
296860622018Synaptic adhesion protein ELFN1 is a selective allosteric modulator of group III metabotropic glutamate receptors in trans.35
296860622018Synaptic adhesion protein ELFN1 is a selective allosteric modulator of group III metabotropic glutamate receptors in trans.35
250475652014Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.61
250475652014Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.61

Citation

Dessen P

ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62791/js/css/lib/welcome