| Description: | ACTL7A is a member of a familyof actin-related proteins (ARPs) which share significant amino acidsequence identity to conventional actins. Both actins and ARPs havean actin fold, which is an ATP-binding cleft, as a common feature.The ARPs are involved in diverse cellular processes, includingvesicular transport, spindle orientation, nuclear migration andchromatin remodeling. ACTL7A (ACTL7A), and related gene, ACTL7B,are intronless, and are located approximately 4 kb apart in ahead-to-head orientation within the familial dysautonomia candidateregion on 9q31. Based on mutational analysis of the ACTL7A gene inpatients with this disorder, it was concluded that it is unlikelyto be involved in the pathogenesis of dysautonomia. The ACTL7A geneis expressed in a wide variety of adult tissues, however, its exactfunction is not known. |
