AI Article Synopsis
- - Astrotactins (ASTNs) and Bone morphogenetic protein/retinoic acid inducible neural-specific proteins (BRINPs) are two protein groups within the MACPF superfamily that play important roles in the vertebrate nervous system, both during development and in maturity.
- - These proteins are encoded by genes located at conserved regions in humans, which have been linked to neurodevelopmental disorders (NDDs), suggesting their significance in brain function and health.
- - The review discusses the distribution, cellular localization, structural insights, genetic relationships, and overlapping functions of ASTNs and BRINPs, supported by findings from knock-out mouse studies.
Article Abstract
Astrotactins (ASTNs) and Bone morphogenetic protein/retinoic acid inducible neural-specific proteins (BRINPs) are two groups of Membrane Attack Complex/Perforin (MACPF) superfamily proteins that show overlapping expression in the developing and mature vertebrate nervous system. ASTN(1-2) and BRINP(1-3) genes are found at conserved loci in humans that have been implicated in neurodevelopmental disorders (NDDs). Here we review the tissue distribution and cellular localization of these proteins, and discuss recent studies that provide insight into their structure and interactions. We highlight the genetic relationships and co-expression of Brinps and Astns; and review recent knock-out mouse phenotypes that indicate a possible overlap in protein function between ASTNs and BRINPs.
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| http://dx.doi.org/10.1016/j.semcdb.2017.05.005 | DOI Listing |
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