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  • Human MACF1 wild-type allele is located in the vicinity of 1p34.3 and is approximately 406 kb in length. This allele, which encodes microtubule-actin cross-linking factor 1, isoforms 1/2/3/5 protein, is involved in crosslinking actin to other cytoskeletal proteins. Point mutations in this gene are associated with lissencephaly 9 with complex brainstem malformation. A translocation t(1;7)(p34;q34) involving this gene and the BRAF gene may be associated with thyroid adenocarcinomas and astrocytomas.
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