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DLGAP3

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(Redirected from SAPAP3)
DLGAP3
Identifiers
AliasesDLGAP3, DAP3, SAPAP3, discs large homolog associated protein 3, DLG associated protein 3, SPAPA3
External IDsOMIM: 611413; MGI: 3039563; HomoloGene: 18276; GeneCards: DLGAP3; OMA:DLGAP3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001080418

NM_001302081
NM_198618

RefSeq (protein)

NP_001073887

NP_001289010
NP_941020

Location (UCSC)Chr 1: 34.87 – 34.93 MbChr 4: 127.06 – 127.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Disks large-associated protein 3 (DAP-3) also known as SAP90/PSD-95-associated protein 3 (SAPAP-3) is a protein that in humans is encoded by the DLGAP3 gene.

Clinical significance

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Mutations in DLGAP3 have been associated with trichotillomania.[5]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000116544Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042388Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Züchner S, Wendland JR, Ashley-Koch AE, Collins AL, Tran-Viet KN, Quinn K, et al. (January 2009). "Multiple rare SAPAP3 missense variants in trichotillomania and OCD". Molecular Psychiatry. 14 (1): 6–9. doi:10.1038/mp.2008.83. PMC 2803344. PMID 19096451.