SYNJ1 synaptojanin 1

Gene ID: 8867, updated on 18-Sep-2024
Gene type: protein coding
Also known as: DEE53; EIEE53; INPP5G; PARK20

Summary

This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Developmental and epileptic encephalopathy, 53 MedGen: C4479313OMIM: 617389GeneReviews: Not available	See labs
Early-onset Parkinson disease 20 MedGen: C3809824OMIM: 615530GeneReviews: Not available	See labs

Genomic context

Location:: 21q22.11

Sequence:: Chromosome: 21; NC_000021.9 (32628759..32728394, complement)

Total number of exons:: 34

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SYNJ1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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