Aliases: LAT3, LPI, MOP-2, Y+LAT1, y+LAT-1
Chromosome No: 14
Chromosome Band: 14q11.2
Genetic Category: Rare single gene variant
ASD Reports: 6
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 6
Evidence score: 2
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Relevance to Autism
A de novo nonsense variant in the SLC7A7 gene was detected in an ASD proband from the Simons Simplex Collection in O'Roak et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 detected one rare inherited loss-of-function variant and one rare inherited damaging missense variant in Chinese ASD probands. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of Chinese ASD cases and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified SLC7A7 as an ASD candidate gene with a PTADA of 0.005861.
Molecular Function
The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI).
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