JAK3 gene

Janus kinase 3

The JAK3 gene provides instructions for making a protein that is critical for the normal development and function of the immune system. The JAK3 protein is part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. Signals relayed by the JAK3 protein regulate the growth and maturation of certain types of white blood cells (lymphocytes) called T cells and natural killer cells. In addition, JAK3 is important for the normal maturation of another type of lymphocyte called B cells. T cells, B cells, and natural killer cells attack bacteria, viruses, and fungi and help regulate the entire immune system.

More than 50 JAK3 gene mutations have been identified in people with JAK3-deficient severe combined immunodeficiency (SCID), an impairment of the immune system that leads to repeated and persistent infections that can be life-threatening.

Most mutations in the JAK3 gene prevent the production of JAK3 protein or result in a protein that is unstable and quickly broken down. Others lead to production of a protein that cannot perform its function. Without functional JAK3 protein, certain chemical signals are not relayed to the nucleus, impairing lymphocyte growth and development. As a result, individuals with JAK3-deficient SCID have few or no T cells and natural killer cells and a normal number of poorly functioning B cells. The shortage of functional lymphocytes causes people with this condition to be susceptible to infections.

Cytogenetic Location: 19p13.11, which is the short (p) arm of chromosome 19 at position 13.11

Molecular Location: base pairs 17,824,782 to 17,848,071 on chromosome 19 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 19p13.11, which is the short (p) arm of chromosome 19 at position 13.11
  • JAK-3
  • JAKL
  • Janus kinase 3 (a protein tyrosine kinase, leukocyte)
  • L-JAK
  • leukocyte Janus kinase
  • LJAK
  • tyrosine-protein kinase JAK3