TFAP2A Summary

The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

TFAP2A Details

Gene Symbol : TFAP2A

Gene Name : Transcription factor AP-2 alpha

Chromosome : CHR 6: 104,198,96-103,966,76

Locus : 6p24.3

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CDK5RAP1 Summary

This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]

CDK5RAP1 Details

Gene Symbol : CDK5RAP1

Gene Name : CDK5 regulatory subunit associated protein 1

Chromosome : CHR 20: 334,027,67-333,588,38

Locus : 20q11.21

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