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E3 ubiquitin-protein ligase XIAP

The XIAP gene encodes a protein that is involved in apoptosis regulation as a suppressor. Mutation cause recessive X-linked lymphoproliferative syndrome 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

X-linked lymphoproliferative syndrome 2
XIAP

References:

1.

Tang G et al. (2001) Inhibition of JNK activation through NF-kappaB target genes.

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2.

Nishida N et al. (2015) Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.

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3.

Dziadzio M et al. (2015) Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

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4.

Latour S et al. (2015) XIAP deficiency syndrome in humans.

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5.

Yang X et al. (2012) Clinical and genetic characteristics of XIAP deficiency in Japan.

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6.

Worthey EA et al. (2011) Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

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7.

Jost PJ et al. (2009) XIAP discriminates between type I and type II FAS-induced apoptosis.

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8.

Kim J et al. (2008) X-linked inhibitor of apoptosis protein is an important regulator of vascular endothelial growth factor-dependent bovine aortic endothelial cell survival.

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9.

Dohi T et al. (2007) Compartmentalized phosphorylation of IAP by protein kinase A regulates cytoprotection.

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10.

Rigaud S et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.

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11.

Mufti AR et al. (2006) XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders.

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12.

Cummins JM et al. (2004) X-linked inhibitor of apoptosis protein (XIAP) is a nonredundant modulator of tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-mediated apoptosis in human cancer cells.

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13.

Shiozaki EN et al. (2003) Mechanism of XIAP-mediated inhibition of caspase-9.

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14.

Sanna MG et al. (2002) ILPIP, a novel anti-apoptotic protein that enhances XIAP-mediated activation of JNK1 and protection against apoptosis.

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15.

Liston P et al. (1996) Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes.

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16.

Harlin H et al. (2001) Characterization of XIAP-deficient mice.

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17.

Riedl SJ et al. (2001) Structural basis for the inhibition of caspase-3 by XIAP.

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18.

Huang Y et al. (2001) Structural basis of caspase inhibition by XIAP: differential roles of the linker versus the BIR domain.

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19.

Chai J et al. (2001) Structural basis of caspase-7 inhibition by XIAP.

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20.

Srinivasula SM et al. (2001) A conserved XIAP-interaction motif in caspase-9 and Smac/DIABLO regulates caspase activity and apoptosis.

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21.

Wu G et al. () Structural basis of IAP recognition by Smac/DIABLO.

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22.

Liu Z et al. () Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain.

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23.

Yang Y et al. (2000) Ubiquitin protein ligase activity of IAPs and their degradation in proteasomes in response to apoptotic stimuli.

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24.

Deveraux QL et al. (1997) X-linked IAP is a direct inhibitor of cell-death proteases.

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25.

Farahani R et al. (1997) Genomic organization and primary characterization of miap-3: the murine homologue of human X-linked IAP.

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26.

Rajcan-Separovic E et al. (1996) Assignment of human inhibitor of apoptosis protein (IAP) genes xiap, hiap-1, and hiap-2 to chromosomes Xq25 and 11q22-q23 by fluorescence in situ hybridization.

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27.

Duckett CS et al. (1996) A conserved family of cellular genes related to the baculovirus iap gene and encoding apoptosis inhibitors.

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28.

Uren AG et al. (1996) Cloning and expression of apoptosis inhibitory protein homologs that function to inhibit apoptosis and/or bind tumor necrosis factor receptor-associated factors.

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Update: Aug. 14, 2020
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