• Essential for DNA replication, RNA transcription, and translation process, which are essential for cell growth.• Helps in bone matrix formation and mineralization; deficiency can lead to stunted growth and delayed skeletal maturation.• Helps in T-cell and B cell formation, which reduces the frequency of infection and also prevent growth retardation.• Influences the function of growth hormone and insulin-like growth factor (IGF-1), both essential for normal growth and development. The gene discussed is GH1; the disease is infection.