|Name:||potassium large conductance calcium-activated channel, subfamily M beta member 3|
|PubMed (10585773):|| Riazi MA, Brinkman-Mills P, Johnson A, Naylor SL, Minoshima S, Shimizu N,Baldini A, McDermid HE. Identification of a putative regulatory subunit of a calcium-activatedpotassium channel in the dup(3q) syndrome region and a related sequence on22q11.2.Genomics. 1999 Nov 15;62(1):90-4. PMID: 10585773 [PubMed - indexed for MEDLINE]|
Duplication of a segment of the long arm of human chromosome 3 (3q26.3-q27) results in a syndrome characterized by multiple congenital abnormalities and neurological anomalies in some patients. We have identified a novel gene (KCNMB3) that maps to this region. KCNMB3 has significant sequence similarity to the regulatory subunit of the large-conductance calcium-activated potassium channel. Due to the significance of potassium channels in neuronal functions, the overexpression of this gene may play a role in the abnormal neurological functions seen in some of these patients. A related sequence corresponding to the second and third exons of this gene resides in the pericentromeric region of 22q11, where a number of other unprocessed pseudogenes are known to map.
>Q9NPA1|KCMB3_HUMAN Calcium-activated potassium channel subunit beta 3 - Homo sapiens (Human). MDFSPSSELGFHFVAFILLTRHRTAFPASGKKRETDYSDGDPLDVHKRLPSSAGEDRAVMLGFAMMGFSVLMFFLLGTTI LKPFMLSIQREESTCTAIHTDIMDDWLDCAFTCGVHCHGQGKYPCLQVFVNLSHPGQKALLHYNEEAVQINPKCFYTPKC HQDRNDLLNSALDIKEFFDHKNGTPFSCFYSPASQSEDVILIKKYDQMAIFHCLFWPSLTLLGGALIVGMVRLTQHLSLL CEKYSTVVRDEVGGKVPYIEQHQFKLCIMRRSKGRAEKS