Discs Large-Associated Protein 3

Alternative Names

  • DLGAP3
  • SAP90/PSD95-Associated Protein 3
  • SAPAP3
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OMIM Number

611413

NCBI Gene ID

58512

Uniprot ID

O95886

Length

64,215 bases

No. of Exons

15

No. of isoforms

1

Protein Name

Disks large-associated protein 3

Molecular Mass

106040 Da

Amino Acid Count

979

Genomic Location

chr1:34,865,435-34,929,649

Gene Map Locus
1p34.3

Description

Predicted to enable PDZ domain binding activity; molecular adaptor activity; and scaffold protein binding activity. Predicted to be involved in protein-containing complex assembly and regulation of postsynaptic neurotransmitter receptor activity. Predicted to be located in synapse. Predicted to be part of postsynaptic density. Predicted to be active in several cellular components, including cholinergic synapse; glutamatergic synapse; and neuromuscular junction. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001080418.2:c.2001-7292A>CUnited Arab EmiratesNC_000001.11:g.34876381T>GNM_001080418.2:c.2001-7292A>C; NP_001073887.1:p.?7541937
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