MACF1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** 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.

**Synonyms:** - ABP620 - ACF7 - FLJ45612 - FLJ46776 - KIAA0465 - KIAA1251 - LIS9 - MACF - Microtubule Actin Crosslinking Factor 1 wt Allele - OFC4