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gene: DENND5A

id23258
symbolDENND5A
organismHomo sapiens
full nameDENN domain containing 5A
summaryThis gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]
variant-disease

NM_015213.4(DENND5A):c.3475C>T (p.Arg1159Trp) AND not provided

NM_015213.4(DENND5A):c.2547del (p.Lys850fs) AND Epileptic encephalopathy, early infantile, 49

NM_015213.4(DENND5A):c.515_516GA[1] (p.Asp173fs) AND Epileptic encephalopathy, early infantile, 49

NM_015213.4(DENND5A):c.3811del (p.Gln1271fs) AND Epileptic encephalopathy, early infantile, 49

NM_015213.4(DENND5A):c.1453A>G (p.Lys485Glu) AND Inborn genetic diseases

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