Automated description from the Alliance of Genome Resources (Release 9.0.0)
Enables chromatin loop anchoring activity and cis-regulatory region sequence-specific DNA binding activity. Involved in chromatin looping; negative regulation of gene expression; and positive regulation of gene expression. Acts upstream of or within several processes, including cardiac muscle cell development; epigenetic regulation of gene expression; and negative regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including 4-8 cell stage conceptus; alimentary system; blastocyst-stage conceptus; central nervous system; and genitourinary system. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 21; basal cell carcinoma; female breast cancer; skin melanoma; and skin squamous cell carcinoma. Orthologous to human CTCF (CCCTC-binding factor).
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