actin related protein T1
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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. [provided by RefSeq, May 2010]
Negatively regulates the Hedgehog (SHH) signaling. Binds to the promoter of the SHH signaling mediator, GLI1, and inhibits its expression.
Mutations and insertions in the coding sequence or in regulatory non-coding elements of this gene may be associated with Bazex syndrome; a cancer-prone genodermatosis with an X-linked dominant inheritance pattern.