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Sequence of this protein is as follows: ELAKSKAEVA CIAVYETDVF VVGTERGRAF VNTRKDFQKD FVKYCVEEEE KAAEMHKMKS TTQANRMSVD AVEIETLRKT VEDYFCFCYG KALGKSTVVP VPYEKMLRDQ SAVVVQGLPE GVAFKHPENY DLATLKWILE NKAGISFIIK RPFLEPKKHV GGRVMVTDAD RSILSPGGSC GPIKVKTEPT EDSGISLEMA AVTVKEESED PDYYQYNIQG SHHSSEGNEG TEMEVPAEG
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: BAP135; BTKAP1; DIWS; GTF2I; GTFII-I; IB291; SPIN; TFII-I; WBS; WBSCR6
UniProt ID: (Human) P78347
Entrez Gene ID: (Human) 2969