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Review
. 2017 Dec:72:171-181.
doi: 10.1016/j.semcdb.2017.05.005. Epub 2017 May 12.

Neurodevelopmental MACPFs: The vertebrate astrotactins and BRINPs

Susan R Berkowicz  1 , Aminah Giousoh  2 , Phillip I Bird  2
Affiliations
Review

Neurodevelopmental MACPFs: The vertebrate astrotactins and BRINPs

Susan R Berkowicz et al. Semin Cell Dev Biol. 2017 Dec.

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.

Keywords: ASTN1; ASTN2; BRINP1; BRINP2; BRINP3; MACPF domain.

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