Overview:

JAK3 is a member of the JAK family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. Low levels of JAK3 expression is detected in immature hematopoietic cells, which dramatically increases during terminal differentiation of these cells suggesting a role of JAK3 in the differentiation of hematopoietic cells. Mutations in JAK3 are associated with autosomal SCID (severe combined immunodeficiency disease) (1). Mice lacking JAK3 show a severe block in B-cell development at the pre-B stage in bone marrow suggesting that JAK3 is critical for the progression of B-cell development in the bone marrow (2).

Gene Aliases:

JAKL, LJAK, JAK-3, L-JAK, JAK3_HUMAN

Genbank Number:

NM_000215

References:

1.Russell S M, et al: Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science 270: 797-799, 1995.

2.Thomis D C, et al: Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3. Science 270: 794-797, 1995.