rs201627623
This variant is located in the BCL11A gene.
▶ClinVar annotation
Dias-Logan syndrome;Intellectual disability, autosomal dominant 45
View on ClinVar →About BCL11A
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all BCL11A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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