rs199635684
This variant is located in the SP110 gene.
▶ClinVar annotation
Hepatic veno-occlusive disease-immunodeficiency syndrome; Inborn genetic diseases
View on ClinVar →About SP110
The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]
View all SP110 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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