Mutations in the HIVEP2 gene are associated with a form of autosomal dominant intellectual disability (MRD43; OMIM 616977); affected individuals frequently display behavioral abnormalities, and autism or autistic features have been observed in a subset of individuals with this disorder (Srivastava et al., 2016; Steinfeld et al., 2016; Goldsmith et al., 2019; Jain and Atwal 2019; Park et al., 2019). Hivep2-deficient mice have been shown to display schizophrenia-like behavioral abnormalities (Takao et al., 2013; Choi et al., 2015; Nakao et al., 2017).
Molecular Function
This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
