DefinitionThis section has been translated automatically.
The ACTRT1 gene (ACTRT1 stands for Actin Related Protein T1) is a protein coding gene located on chromosome Xq25.
General informationThis section has been translated automatically.
The ACTRT1 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 therefore likely has a function in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1.
Diseases associated with ACTRT1 include:
- Bazex-Dupré-Christol syndrome.
The encoded protein negatively regulates Hedgehog (SHH) signaling.
Binds to the promoter of the SHH signaling mediator GLI1 and inhibits its expression.
LiteratureThis section has been translated automatically.
- Bal E et al. (2017) Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of
- Hedgehog signaling in inherited and sporadic basal cell carcinomas. Nat Med 23:1226-1233.
- Bazex A, Dupré A, Christol B (1966) Atrophoderma folliculaire, proliférations baso-cellulaires et hypotrichosis. Ann Dermatol Syphiligr (Paris) 93: 241-254.
- Buxtorf K et al (2001) Bazex syndrome. Dermatology 202: 350-352
- Gill D et al (2001) Bullous lesions in Bazex syndrome and successful treatment with oral psoralen phototherapy. Australas J Dermatol 42: 278-280
- Plosila M, Kiistala R, Niemi KM (1981) The Bazex syndrome: follicular atrophoderma with multiple basal cell carcinoma, hypotrichosis and hypohidrosis. Clin Exp Dermatol 6: 31-41