NFAM1
Description
The NFAM1 (NFAT activating protein with ITAM motif 1) is a protein-coding gene located on chromosome 22.
NFAM1, or NFAT activating protein with ITAM motif 1, is a protein encoded by the NFAM1 gene in humans. It functions as a type I membrane receptor that activates cytokine gene promoters, such as those for IL-13 and TNF-alpha. NFAM1 contains an Immunoreceptor tyrosine-based activation motif (ITAM) and is believed to play a role in the signaling and development of B-cells.
NFAM1 acts as a receptor within the immune system, initiating the activation of downstream cytokine gene promoters through the calcineurin/NFAT signaling pathway. Specifically, it triggers the transcription of IL-13 and TNF-alpha promoters. While NFAM1 may contribute to B-cell development, it does not appear to play a role in T-cell development. Interestingly, even without ligand binding or antibody cross-linking, overexpression of NFAM1 activates downstream effectors.
NFAM1 is also known as CNAIP.
Associated Diseases
- bipolar disorder
- amelogenesis imperfecta
- dentin dysplasia type I
- 46,XX ovotesticular disorder of sex development
- 46,XY sex reversal 3
- testicular agenesis
- dentinogenesis imperfecta type 3
- 46,XY complete gonadal dysgenesis
- dentinogenesis imperfecta
- dentin dysplasia type II
- Mayer-Rokitansky-Kuster-Hauser syndrome
- hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
