Synaptojanin 1

Alternative Names

  • SYNJ1
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OMIM Number

604297

NCBI Gene ID

8867

Uniprot ID

O43426

Length

102,489 bases

No. of Exons

34

No. of isoforms

4

Protein Name

Synaptojanin-1

Molecular Mass

173103 Da

Amino Acid Count

1573

Genomic Location

chr21:32,628,758-32,731,246

Gene Map Locus
21q22.11

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_003895.3:c.709C>TOman; United Arab Emir...NC_000021.9:g.32695170G>ALikely PathogenicDevelopmental and Epileptic Encephalopathy 53NG_030017.1:g.37872C>T; NM_003895.3:c.709C>T; NP_003886.3:p.Gln237Ter771210989
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