Aliases: ALXDRD
Chromosome No: 17
Chromosome Band: 17q21.31
Genetic Category: Rare single gene variant
ASD Reports: 1
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
Three de novo missense variants that were predicted to be possibly damaging (defined as 1 MPC 2) were identified in the GFAP gene in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified GFAP as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).
Molecular Function
This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Heterozygous mutations in this gene cause Alexander disease (OMIM 203450), a rare disorder of astrocytes in the central nervous system.
External Links
