solute carrier family 25 member 19; mitochondrial thiamine pyrophosphate carrier; mitochondrial uncoupling protein 1 (SLC25A19, DNC, MUP1)

Function

• mitochondrial transporter
• mediates uptake of thiamine pyrophosphate into mitochondria

Structure

• belongs to the mitochondrial carrier family
• contains 3 solcar repeats
• the transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle
• odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (putative)

Compartment

• mitochondrial inner membrane

Expression

• expressed in all tissues examined except for placenta
• highest levels in colon, kidney, lung, testis, spleen, & brain

Pathology

• defects in SLC25A19 are the cause of microcephaly amish type

More general terms

• transmembrane 5 protein
• glycoprotein
• mitochondrial membrane protein
• solute carrier family 25 (SLC25, SLC25A)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=60386
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:60386
• OMIM: https://mirror.omim.org/entry/606521
• OMIM: https://mirror.omim.org/entry/607196
• UniProt: http://www.uniprot.org/uniprot/Q9HC21.html