The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.

Article Details

Citation

Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M, et al.

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.

Nature. 1993 Jan 21;361(6409):226-33.

PubMed ID
8380905 [ View in PubMed
]
Abstract

X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder. The gene is a member of the src family of proto-oncogenes which encode protein-tyrosine kinases. This is, to our knowledge, the first evidence that mutations in a src-related gene are involved in human genetic disease.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Tyrosine-protein kinase BTKQ06187Details