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Immunogen sequence: FVIKKHELLN STREDLQLDK PASGVKEEWY ARITKLRKMV DQLFCKKFAE ALGSTEAKAV PYQKFEAHPN DLYVEGLPEN IPFRSPSWYG IPRLEKIIQV GNRIKFVIKR PELLTHSTTE VTQPRTNTPV KEDWNVRIT
This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11. 23. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7, 13 and 21.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: BAP-135; Bruton tyrosine kinase-associated protein 135; BTK-associated protein, 135kD; General transcription factor II-I; GTFII-I; OTTHUMP00000209509; SPIN; SRF-Phox1-interacting protein; tfiii; Williams-Beuren syndrome chromosomal region 6 protein; Williams-Beuren syndrome chromosome region 6
Gene Aliases: BAP135; BTKAP1; DIWS; GTF2I; GTFII-I; IB291; SPIN; TFII-I; WBS; WBSCR6
UniProt ID: (Human) P78347
Entrez Gene ID: (Human) 2969
Molecular Function:
general transcription factor
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