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Reviewed January 2009
What is the official name of the SLC3A1 gene?
The official name of this gene is “solute carrier family 3 (amino acid transporter heavy chain), member 1.”
SLC3A1 is the gene's official symbol. The SLC3A1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the SLC3A1 gene?
The SLC3A1 gene provides instructions for producing one part (subunit) of a protein made primarily in the kidneys. This subunit joins with another protein subunit, produced from the SLC7A9 gene, to form a transporter protein complex. During the process of urine formation in the kidneys, this protein complex absorbs particular protein building blocks (amino acids) back into the blood. In particular, the amino acids cystine, ornithine, arginine, and lysine are absorbed back into the blood through this mechanism.
Does the SLC3A1 gene share characteristics with other genes?
The SLC3A1 gene belongs to a family of genes called SLC (solute carriers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the SLC3A1 gene related to health conditions?
Where is the SLC3A1 gene located?
Cytogenetic Location: 2p16.3
Molecular Location on chromosome 2: base pairs 44,275,458 to 44,320,824
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The SLC3A1 gene is located on the short (p) arm of chromosome 2 at position 16.3.
More precisely, the SLC3A1 gene is located from base pair 44,275,458 to base pair 44,320,824 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SLC3A1?
You and your healthcare professional may find the following resources about SLC3A1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the SLC3A1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding SLC3A1?
acids ; amino acid ; arginine ; atypical ; carrier ; cysteine ; cystine ; deletion ; disability ; DNA ; gene ; hypotonia ; low muscle tone ; lysine ; motor ; muscle tone ; nucleotide ; oxidative phosphorylation ; phosphorylation ; protein ; psychomotor ; ptosis ; short stature ; solute ; stature ; subunit ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.