GENETIC ENCYCLOPEDIA
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gene: SOX6

id55553
symbolSOX6
organismHomo sapiens
full nameSRY-box transcription factor 6
summaryThis gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
variant-disease

GRCh37/hg19 11p15.2-15.1(chr11:16192283-16308668)x3 AND not provided

GRCh37/hg19 11p15.1(chr11:16453182-16504966)x3 AND not provided

NM_033326.3(SOX6):c.718C>T (p.Gln240Ter) AND not provided

GRCh37/hg19 11p15.2-15.1(chr11:16192283-16228217)x3 AND not provided

GRCh37/hg19 11p15.1(chr11:16280479-16308502)x3 AND not provided

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