Mup1 Gene Search Result

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Genes search result for Homo sapiens
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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1343771	SLC25A19	solute carrier family 25 member 19	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 ... (more) 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]	17	75272992	75289433	Human	207	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]