GENETIC ENCYCLOPEDIA
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gene: CITED1

id4435
symbolCITED1
organismHomo sapiens
full nameCbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1
summaryThis gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
variant-disease

GRCh38/hg38 Xq13.1(chrX:71810439-72381499)x3 AND See cases

GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3 AND See cases

GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 AND See cases

GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 AND See cases

GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 AND See cases

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