Species: Hu, Mu
Applications: WB, Simple Western
Host: Mouse Monoclonal
Species: Hu
Applications: WB, Flow
Host: Mouse Monoclonal
Species: Hu, Mu, Rt
Applications: WB, Simple Western, ICC/IF
Host: Goat Polyclonal
Species: Hu, Mu, Rt
Applications: Func-Inh, In vitro, In vivo, B/N
Species: Hu
Applications: WB
Species: Hu
Applications: WB
Species: Hu
Applications: WB
Species: Hu
Applications: WB, ELISA, PA, AP, KA
Species: Hu
Applications: WB, ELISA, PA, AP
Species: Hu
Applications: AC
Description
Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males (The International Incontinentia Pigmenti Consortium, 2000 [PubMed 10839543]). In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system. The prominent skin signs occur in 4 classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation, and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. Familial incontinentia pigmenti is caused by mutations in the NEMO gene and is here referred to as IP2, or 'classical' incontinentia pigmenti. Sporadic incontinentia pigmenti, the so-called IP1, which maps to Xp11, is categorized as hypomelanosis of Ito (MIM 300337).[supplied by OMIM]
Bioinformatics
| Entrez |
Mouse
Rat
Human
|
| Uniprot |
Human
Human
Human
Human
Human
Mouse
Human
|
| Product By Gene ID |
8517 |
| Alternate Names |
- FIP-3IP2
- FIP3NF-kappa-B essential modifier
- Fip3p
- I-kappa-B kinase subunit gamma
- IkB kinase gamma subunit
- IkB kinase subunit gamma
- IkB kinase-associated protein 1
- IKKAP1
- IKKG
- IKK-gammaIPD2
- incontinentia pigmenti
- inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
- Inhibitor of nuclear factor kappa-B kinase subunit gamma
- IP
- IP1
- NEMOAMCBX1
- NFkappaB essential modulator
- NF-kappa-B essential modulator
|
Bioinformatics Tool for IKK gamma
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