Neurodevelopmental MACPFs: The vertebrate astrotactins and BRINPs

Susan R. Berkowicz, Aminah Giousoh, Phillip I. Bird

Research output: Contribution to journalArticleResearchpeer-review

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)171-181
Number of pages11
JournalSeminars in Cell and Developmental Biology
Volume72
DOIs
Publication statusPublished - Dec 2017

Keywords

  • ASTN1
  • ASTN2
  • BRINP1
  • BRINP2
  • BRINP3
  • MACPF domain

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