Missense mutations affecting a conserved cysteine pair in the TH domain of Btk
Författare
Summary, in English
Tec family protein tyrosine kinases have in their N-terminus two domains, The PH domain is followed by Tec homology (TH) domain, which consists of two motifs, The first pattern, Btk motif, is also present in some Pas GAP molecules, C-terminal half of the TH domain, a proline-rich region, has been shown to bind to SH3 domains, Mutations in Bruton's tyrosine kinase (Btk) belonging to the Tec family cause X-linked agammaglobulinemia (XLA) due to developmental arrest of B cells, Here Ive present the first missense mutations in the TH domain, The substitutions affect a conserved pair of cysteines, residues 154 and 155, involved in Zn2+ binding and thereby the mutations alter protein folding and stability. (C) 1997 Federation of European Biochemical Societies.
Publiceringsår
1997
Språk
Engelska
Sidor
205-210
Publikation/Tidskrift/Serie
FEBS Letters
Volym
413
Issue
2
Dokumenttyp
Artikel i tidskrift
Förlag
Wiley-Blackwell
Ämne
- Biological Sciences
Nyckelord
- XLA
- kinase
- cytoplasmic tyrosine
- signal transduction
- Btk
- Bruton's tyrosine kinase
- X-linked agammaglobulinemia
- Ras GAP
Status
Published
ISBN/ISSN/Övrigt
- ISSN: 1873-3468