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ACTRT1 encodes a protein related to the cytoskeletal protein beta-actin.
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Study identified mutations in the ACTRT1 gene, which encodes actin-related protein T1 (ARP-T1), in two of the six families with Bazex-Dupre-Christol syndrome (BDCS) that were examined in this study. ARP-T1 was found to directly bind to the GLI1 (zeige GLI1 Antikörper) promoter, thus inhibiting GLI1 (zeige GLI1 Antikörper) expression, and loss of ARP-T1 led to activation of the Hedgehog (zeige SHH Antikörper) pathway in individuals with BDCS.
Describes the discovery of two actin-related proteins as major components in a cytoskeletal, nonmotile structure of bull spermatozoa, suggesting that certain members of this family of proteins may serve functions other than nucleation of actin filaments.
This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X.
actin-related protein T1