NLRP1 Gene Ontology

Gene ontology terms for the NLRP1 gene were found using the program AmiGO [1]. Gene ontology's main goal is to unify the representation of gene and gene product functionality across all species.



Biological Process: 
Activation of caspase activity
Defense response
Induction of apoptosis
Neuron apoptosis
Regulation of apoptosis

Cellular Component: 
Cytoplasm
Intracellular
Nucleus

Molecular Function:
ATP binding
Caspase activator activity
Enzyme binding
Nucleotide binding
Protein binding

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Analysis

Vitiligo is an autoimmune disease associated with the loss of pigment to skin and hair. The phenotype of this disease comes as a direct result of the body's immune system acting on itself. Melanocytes are destroyed via apoptosis (cell death). Apoptosis is the end result of an over-reactive caspase cascade caused by mutations with the NRLP1 gene. Unsurprisingly, many of these cell death descriptors are found in the gene ontology of vitiligo. 

References

[1] Day-Richter J, Harris MA, Haendel M, Gene Ontology OBO-Edit Working Group, Lewis S. OBO-Edit--an ontology editor for biologists. Bioinformatics. Aug 2007;23(16):2198-200.

This Web site was created as a project for Genetics 677 at UW-Madison, Spring 2010.


May 16, 2010. Sarah Hamilton.