SLC25A19 solute carrier family 25 member 19
Gene ID: 60386, updated on 3-Nov-2024Gene type: protein coding
Also known as: DNC; TPC; MUP1; MCPHA; MTPPT; THMD3; THMD4
Summary
This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
| Description | Tests |
|---|---|
| Amish lethal microcephaly | not available |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | not available |
Genomic context
- Location:
- 17q25.1
- Sequence:
- Chromosome: 17; NC_000017.11 (75272992..75289433, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for SLC25A19 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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