DISEASES

Disease-gene associations mined from literature

Literature associating DLG1 and chromosome 3q29 microdeletion syndrome

DLG1 [ENSP00000345731]

Discs, large homolog 1 (Drosophila); Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel; Belongs to the MAGUK family.

Synonyms:  DLG1,  DLG1p,  hDLG1,  A8MUT6,  B4E2H8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM