SKIV2L Antibody – Rabbit Polyclonal

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]

SKI2W: Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C). Defects in SKIV2L are the cause of trichohepatoenteric syndrome type 2 (THES2). A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. Belongs to the helicase family. SKI2 subfamily.

Protein type: EC 3.6.4.-; EC 3.6.1.-; Helicase

Chromosomal Location of Human Ortholog: 6p21

Cellular Component: nucleoplasm; nucleus

Molecular Function: RNA binding; ATP binding; ATP-dependent RNA helicase activity

Biological Process: metabolic process

Disease: Trichohepatoenteric Syndrome 2