External Ids for ACTL7A Gene
Previous GeneCards Identifiers for ACTL7A Gene
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACTL7A Gene
ACTL7A (Actin Like 7A) is a Protein Coding gene. Diseases associated with ACTL7A include Hypertensive Nephropathy and Neuropathy, Hereditary Sensory And Autonomic, Type V. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is ACTL7B.