| Information |
|---|
| NOD2 protein |
| InnateImmunity |
|
chr16 (+) (chr16:49288551-49324488) |
|
NM_022162
|
| 52 |
| 0 |
| 4 |
| 0 |
|
[ SNPper ]
[ GoldenPath ]
[ Gene Image ]
[ LocusLink ]
[ Omim ]
[ PubMed ]
|
|
The innate immune system regulates the immediate response to microbial pathogens and is initiated by recognition of specific pathogen components by receptors in host immune cells. NOD1 and NOD2 seem to function as intracellular receptors for LPS. NOD2 has structural homology with both the apoptosis regulators Apaf-1/Ced-4 and a class of plant disease resistant gene products. Like the latter gene products, NOD2 comprises an amino-terminal effector domain, a nucleotide-binding domain and leucine-rich repeats. NOD2 is a cytosolic protein whose expression is restricted to monocytes. The gene has been mapped to chromosome 16q12. It has recently been shown that truncation of the tenth leucin-rich repeat of NOD2 is associated with Crohn's disease. Functional analyses indicate that the disease-associated NOD2 variant is significantly less active than the wild-type protein in conferring responsiveness to bacterial LPS. Other leucine-rich repeat variants have been found to be associated with Chron's disease.
( See Omim for more ... ) |
