| Background | ACTL7A 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. ACTL7A (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. |
查看与下载
