GENETIC ENCYCLOPEDIA
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gene: COPB1

id1315
symbolCOPB1
organismHomo sapiens
full nameCOPI coat complex subunit beta 1
summaryThis gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
variant-disease

GRCh37/hg19 11p15.2(chr11:14513629-14816556)x3 AND not provided

GRCh37/hg19 11p15.2(chr11:14508698-14865666)x3 AND not provided

GRCh37/hg19 11p15.2(chr11:14498547-14855923)x3 AND not provided

GRCh37/hg19 11p15.2(chr11:14504463-14909461)x1 AND Thyroid hemiagenesis

GRCh37/hg19 11p15.2(chr11:14460052-15556068)x3 AND See cases

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