Aliases: CDG1Y, TRAPD
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 11
Evidence score: 2
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Relevance to Autism
De novo likely loss-of-function variants in the SSR4 gene have been identified in ASD probands of East Asian ancestry (Takata et al., 2018; Miyake et al., 2023; Wu et al., 2024). Johnsen et al., 2024 reported that behavioral issues were described in 46% (5/11) of individuals diagnosed with SSR4-CDG, including autistic features, reduced impulse control and aggressive behavior (including auto-aggression), and stereotypies.
Molecular Function
This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Hemizygous mutations in the SSR4 gene are responsible for congenital disorder of glycosylation type Iy (CDG1Y; OMIM 300934).
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