G2Cdb::Allele report

Mutation type
P

Altered genes (1)

Gene Symbol Species Description
G00001604 PLCB1 Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific)

Diseases (1)

Disease Description Nervous effect
D00000138 Multiple endocrine neoplasia type I N

Literature (1)

Pubmed - human_disease

  • Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1.

    Weber G, Grimmond S, Lagercrantz J, Friedman E, Phelan C, Carson E, Hayward N, Jacobovitz O, Nordenskjöld M and Larsson C

    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.

    The predisposing genetic defect in multiple endocrine neoplasia type 1 has been assigned to chromosomal region 11q13. Our previous attempts to identify the MEN1 gene have resulted in the isolation of the phospholipase C beta 3 gene from the actual region. PLCB3 plays an important role in signal transduction and, moreover, shows loss of expression in some endocrine tumors, in accordance with a putative tumor suppressor gene function, and thus appears to be an excellent candidate for MEN1. We have therefore undertaken screening for constitutional mutations in individuals from MEN1 families. Several sequence alterations have been discovered, none of them however fulfilling the criteria for a disease-related mutation. We can now exclude PLCB3 from candidacy as the MEN1 gene.

    Human genetics 1997;99;1;130-2

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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