ACTB (Actin, beta)

	Genomic organization of the ACTB gene.
Description	Six exons, spans approximately 3.4 kb of genomic DNA in the centromere-to-telomere orientation. The translation initiation codon ATG is located in exon 2, and the stop codon in exon 6.
Transcription	mRNA of approximately 1.8 kb.
Pseudogene	At least 19 processed, non-expressed, pseudogenes are dispersed throughout the genome.

Note
Disease	Pericytoma with t(7;12)
Prognosis	Benign or low-malignant
Cytogenetics	t(7;12)(p22;q13)
Hybrid/Mutated Gene	ACTB-GLI1 fusion gene. The breakpoints reported so far have been located to introns 1, 2 or 3 within the ACTB gene, and to introns 5 or 6 or to exon 7 within the GLI1 gene. Reciprocal GLI1-ACTB gene fusions have also been detected. The breakpoints have been located to introns 5 or 7 within the GLI1 gene, and to intron 3 of the ACTB gene.
	Representative G-banded partial karyotype of the t(7;12)(p22;q13).
Abnormal Protein	The ACTB-GLI1 fusion protein contains the N-terminal of ACTB and the C-terminal of GLI1, including the DNA-binding zink finger motifs (encoded by exons 7-10) and transactivating motifs (exon 12).
Oncogenesis	It is suggested that the strong ACTB promoter causes an overexpression of GLI1 sequences important for transcriptional activation of downstream target genes, akin to the oncogenic mechanisms of the COL1A1-PDGFB fusion gene detected in dermatofibrosarcoma protuberans.

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