| Modification Notes |
NFAM1 (NFAT activating protein with ITAM motif 1), also known as CNAIP, is a 270 amino acid single-pass type I membrane protein that contains one ITAM domain and one immunoglobulin-like domain and is subject to glycosylation on its N-terminus. Highly expressed in mast cells, lymphocytes and primary monocytes and expressed at lower levels in non-immune tissue, NFAM1 interacts with Zap-70 and Syk and is thought to function as a receptor, activating both cytokine gene promotors and the NFAT signaling pathway. Additionally, NFAM1 may play an important role in the regulation of B-cell development, thereby mediating immune system function. The gene encoding NFAM1 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia. |