GLG1
Homo sapiens
Gene Name: golgi glycoprotein 1
Aliases: CFR-1, ESL-1, MG-160, MG160
Chromosome No: 16
Chromosome Band: 16q23.1
Genetic Category: Rare single gene variant
Aliases: CFR-1, ESL-1, MG-160, MG160
Chromosome No: 16
Chromosome Band: 16q23.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 9
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
GLG1 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to four ASD probands in three independent families.
Molecular Function
Binds fibroblast growth factor and E-selectin (cell-adhesion lectin on endothelial cells mediating the binding of neutrophils).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recent ultra-rare inherited variants implicate new autism candidate risk genes
ASD
