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gene: OSBPL5

id114879
symbolOSBPL5
organismHomo sapiens
full nameoxysterol binding protein like 5
summaryThis gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
variant-disease

GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 AND See cases

GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 AND See cases

GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 AND See cases

GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 AND See cases

GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 AND See cases

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