SLC66A1
Solute Carrier Family 66 Member 1
Gene Information Card
| Symbol | SLC66A1 |
|---|---|
| Full Name | solute carrier family 66 member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NNA5 |
| OMIM ID | 618841 |
| HGNC ID | 44197 |
| Aliases | C2orf30, MFSD12 |
Description
SLC66A1 (solute carrier family 66 member 1) is a protein-coding gene located on chromosome 2p23.3. It encodes a member of the major facilitator superfamily (MFS) of transporters, functioning as a lysosomal amino acid transporter. The protein is involved in the export of amino acids from lysosomes, playing a role in cellular amino acid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypopigmentation | Altered lysosomal amino acid transport affecting melanosome function | OMIM #618841 |
| Vitiligo susceptibility | Genetic association with autoimmune depigmentation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.7 | Low |
| Liver | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| A549 | 10.2 | Low expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Loss of function |
| c.494G>A (p.Arg165His) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
p.Arg113Trp impairs lysosomal amino acid export
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity (GO:0015171) | • lysosome (GO:0005764) |
| • amino acid transport (GO:0006865) | • integral component of membrane (GO:0016021) |
Pathways
• Lysosomal amino acid transport
Protein Summary
The SLC66A1 protein (UniProt A6NNA5) is a 456-amino acid lysosomal membrane transporter with 12 transmembrane domains. It belongs to the major facilitator superfamily and mediates the efflux of neutral amino acids from lysosomes, critical for cellular amino acid recycling and melanin synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC66A1 Knockout HEK293 Cell Line | EDJ-KQ12226 | Human | 54896 | Details Get a Quote |
| SLC66A1 Knockout HCT 116 Cell Line | EDJ-KQ40982 | Human | 54896 | Details Get a Quote |
| SLC66A1 Knockout HeLa Cell Line | EDJ-KQ40983 | Human | 54896 | Details Get a Quote |
| SLC66A1 Knockout A-549 Cell Line | EDJ-KQ39745 | Human | 54896 | Details Get a Quote |
