GENETIC ENCYCLOPEDIA
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gene: CPB2

id1361
symbolCPB2
organismHomo sapiens
full namecarboxypeptidase B2
summaryCarboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
variant-disease

GRCh37/hg19 13q14.13(chr13:46513068-47043220)x3 AND not provided

GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1 AND See cases

GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 AND See cases

GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 AND See cases

GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 AND See cases

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