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SLC38A8
solute carrier family 38 member 8
SLC38A8 is located on the long (q) arm of chromosome 16, at band 16q23.3. Arm ratio per GRCh38 - banding schematic.
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Overview
SLC38A8 is a member of the solute carrier family 38, a group of genes encoding membrane-embedded transport proteins. The SLC38 family specialises in sodium-coupled transport of neutral amino acids, moving these nutrients across cellular membranes in conjunction with sodium ions. Located on chromosome 16, SLC38A8 remains relatively understudied compared to other family members, and its precise physiological role continues to be investigated.
Solute carrier proteins serve as critical gatekeepers for cellular metabolism, controlling which molecules enter or exit cells. Whilst some SLC38 family members have well-characterised roles in brain function, kidney processing, and placental nutrient transport, the specific tissue distribution and substrate preferences of SLC38A8 are still being explored through ongoing research.
What the gene does
The protein encoded by SLC38A8 functions as a transmembrane transporter, moving amino acids across lipid bilayers that form cellular boundaries. Like other sodium-coupled transporters, it likely uses the concentration gradient of sodium ions to drive the movement of amino acids against their own concentration gradients, a process termed secondary active transport.
Amino acid transporters play essential roles throughout the body. They ensure that cells receive adequate building blocks for protein synthesis, support neurotransmitter production in the nervous system, and maintain proper nitrogen balance. Different SLC38 family members show preferences for particular amino acid substrates and operate in distinct tissues, suggesting functional specialisation.
The precise substrate specificity and tissue expression pattern of SLC38A8 distinguish it from closely related family members such as SLC38A1 and SLC38A2. Research continues to define which amino acids this transporter preferentially carries and in which cellular contexts it operates most prominently.
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Chromosome location
SLC38A8 resides on the long arm of chromosome 16 at position 16q23.3. This chromosomal region contains numerous genes involved in diverse cellular processes. The genomic structure of SLC38A8, including its exon count and regulatory elements, has not been comprehensively catalogued in public databases, reflecting the gene's status as a more recently identified family member requiring further characterisation.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variation in SLC38A8 has been documented in population databases, though the clinical significance of most variants remains uncertain. As with many incompletely characterised genes, distinguishing benign population variation from potentially pathogenic changes requires careful analysis of multiple lines of evidence, including variant frequency, predicted protein impact, and segregation patterns in families when available.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Currently, no inherited conditions have been definitively linked to pathogenic variants in SLC38A8 in clinical genetics literature. This absence of known disease associations may reflect either genuine tolerance of the gene to functional disruption or simply insufficient research attention compared to more intensively studied genes. As whole-genome sequencing becomes routine in clinical practice, previously unrecognised gene-disease relationships continue to emerge.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the SLC38A8 gene do?
SLC38A8 encodes a membrane transporter protein that moves amino acids across cell membranes, likely using sodium ion gradients to drive transport. Its precise role in human physiology continues to be investigated.
Are genetic variants in SLC38A8 linked to any health conditions?
No inherited conditions have been definitively associated with pathogenic variants in SLC38A8 to date. Research may reveal clinically relevant connections as genetic studies expand.
How does SLC38A8 differ from other SLC38 family members?
Whilst all SLC38 family members transport amino acids coupled to sodium movement, individual members differ in their substrate preferences, tissue distribution, and regulatory mechanisms. SLC38A8's specific functional niche is still being defined through ongoing research.