KCNQ1 Downstream Neighbor (KCNQ1DN)
BWRT; Beckwith-Wiedemann Region Transcript Protein
Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele.
KCNQ1DN has a small ORF encoding 68 amino acids, but it lacks a Kozak consensus sequence around the initiator ATG, suggesting it is not translated. KCNQ1DN expression was present in fetal kidney between 82 and 103 days of gestation. RT-PCR showed monoallelic expression of KCNQ1DN in fetal kidney and maternal expression of KCNQ1DN in placenta.
Organism species: Homo sapiens (Human)
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