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NXF5 is one member of a family of nuclear RNA export factor genes. Zusätzlich bieten wir Ihnen NXF5 Proteine (2) und viele weitere Produktgruppen zu diesem Protein an.
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study of an Australian pedigree in which focal segmental glomerulosclerosis co-segregates with progressive heart block; study found 2 mutations NXF5-R113W and ALG13 (zeige ALG13 Antikörper)-T141L segregated with disease phenotype; predicted the NXF5 R113W mutation to be deleterious; cellular studies support a role in the stability and localization of the protein suggesting a causative role
Mutations of the NXF5 gene is associated with X-linked mental retardation
This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo.
nuclear RNA export factor 5
, TAP-like protein 1
, nuclear RNA export factor 2B