Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Helicase SKI2W

The protein product of the SKIV2L gene is probaly capable of binding virla mRNA and may therefore contribute to innate immunity. Mutations cause autosomal recessive Trichohepatoenteric syndrome 2.


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

Related Diseases:

Trichohepatoenteric syndrome 2



Dangel AW et al. (1995) Human helicase gene SKI2W in the HLA class III region exhibits striking structural similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: emergence of a new gene family.

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Lee SG et al. (1995) Identification and characterization of a human cDNA homologous to yeast SKI2.

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Shen L et al. (1994) Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication.

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Yang Z et al. (1998) Four ubiquitously expressed genes, RD (D6S45)-SKI2W (SKIV2L)-DOM3Z-RP1 (D6S60E), are present between complement component genes factor B and C4 in the class III region of the HLA.

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Chen CY et al. (2001) AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.

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Fabre A et al. (2012) SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

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Update: Aug. 14, 2020
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