GENETIC ENCYCLOPEDIA
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gene: IMPG1

id3617
symbolIMPG1
organismHomo sapiens
full nameinterphotoreceptor matrix proteoglycan 1
summaryThis gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
variant-disease

NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) AND Macular dystrophy, vitelliform, 4

NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter) AND Macular dystrophy, vitelliform, 4

NM_001563.4(IMPG1):c.807+1G>T AND Macular dystrophy, vitelliform, 4

NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro) AND Macular dystrophy, vitelliform, 4

NM_001563.4(IMPG1):c.175C>T (p.Arg59Ter) AND not provided

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