background:
Defects in NOD2 are the cause of sarcoidosis early-onset (EOS) . EOS is a form of sarcoidosis manifesting in children younger than 4 years of age. Sarcoidosis is an idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Early-onset sarcoidosis is quite rare and has a distinct triad of skin, joint and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, early-onset sarcoidosis is progressive and in many cases causes severe complications, such as blindness, joint destruction and visceral involvement.
Subunit:
Binds to RIPK2/RICK by CARD-CARD interaction.
Subcellular Location:
Cytoplasm.
Tissue Specificity:
Monocytes-specific.
Similarity:
Contains 2 CARD domains.
Contains 9 LRR (leucine-rich) repeats.
Contains 1 NACHT domain.
Database links:
Entrez Gene: 64127 Human
Entrez Gene: 257632 Mouse
Entrez Gene: 291912 Rat
Omim: 605956 Human
SwissProt: Q9HC29 Human
SwissProt: Q8K3Z0 Mouse
Unigene: 592072 Human
Unigene: 222633 Mouse
Unigene: 218600 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
CARD15与家族性肠黏膜克罗恩病有关。
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