GENETIC ENCYCLOPEDIA
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gene: TSPO

id706
symbolTSPO
organismHomo sapiens
full nametranslocator protein
summaryPresent mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]
variant-disease

GRCh37/hg19 22q13.2(chr22:43472147-43723031)x3 AND not provided

GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3 AND not provided

GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 AND See cases

GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 AND See cases

GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 AND not provided

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