SLC5A6: Sodium-Dependent Multivitamin Transporter
Essential transporter for biotin, pantothenate, and lipoate uptake; linked to systemic multivitamin deficiency and neurodevelopmental disorders.
Gene Information Card
| Symbol | SLC5A6 |
|---|---|
| Full Name | solute carrier family 5 member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 8884 ncbi.nlm.nih.gov/gene/8884 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9Y289 |
| OMIM ID | 604024 |
| HGNC ID | 11027 |
| Aliases | SMVT, hSMVT, MGC126592 |
Description
SLC5A6 encodes the sodium-dependent multivitamin transporter (SMVT), a transmembrane protein responsible for the cellular uptake of biotin (vitamin B7), pantothenate (vitamin B5), and lipoate. It is essential for maintaining intracellular levels of these cofactors, which are critical for fatty acid metabolism, energy production, and gene regulation. Loss-of-function mutations cause systemic multivitamin deficiency and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| SLC5A6 deficiency (multivitamin deficiency disorder) | Biallelic loss-of-function mutations impair biotin, pantothenate, and lipoate transport, leading to systemic deficiency | ClinVar, OMIM |
| Neurodevelopmental disorder with microcephaly and seizures | Impaired vitamin transport disrupts brain energy metabolism and development | OMIM #618973 |
| Immunodeficiency | Vitamin deficiency affects immune cell function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Liver | 8.9 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocyte line |
| Caco-2 | 11.7 | Intestinal epithelial line |
| SH-SY5Y | 7.2 | Neuroblastoma line |
| HEK293 | 6.8 | Embryonic kidney line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1255C>T (p.Arg419Ter) | Nonsense | Rare | Loss of function; truncation |
| c.1042G>A (p.Gly348Arg) | Missense | Rare | Impaired transport activity |
| c.1666C>T (p.Arg556Trp) | Missense | Rare | Reduced membrane expression |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause SLC5A6 deficiency with multivitamin deficiency and neurodevelopmental phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008523 – sodium-dependent multivitamin transmembrane transporter activity | • GO:0015887 – pantothenate transmembrane transport |
| • GO:0015878 – biotin transport | • GO:0015910 – lipoate transport |
| • GO:0055085 – transmembrane transport | • GO:0016021 – integral component of membrane |
Pathways
• Vitamin B5 (pantothenate) metabolism
• Biotin metabolism
• Lipoate metabolism and fatty acid synthesis
Protein Summary
The sodium-dependent multivitamin transporter (SMVT) is a 635-amino acid integral membrane protein with 12 transmembrane domains. It mediates electrogenic co-transport of biotin, pantothenate, and lipoate with sodium ions. SMVT is expressed in the brush border of intestinal and renal epithelia, as well as in brain, liver, and heart. It is essential for vitamin homeostasis and energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC5A6 Knockout HEK293 Cell Line | EDC08388 | Human | 8884 | Details Get a Quote |
| SLC5A6 Knockout A-549 Cell Line | EDJ-KQ30406 | Human | 8884 | Details Get a Quote |
| SLC5A6 Knockout HCT 116 Cell Line | EDC07824 | Human | 8884 | Details Get a Quote |
| SLC5A6 Knockout HeLa Cell Line | EDJ-KQ30408 | Human | 8884 | Details Get a Quote |
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