mitochondrial thiamine pyrophosphate carrier [Homo sapiens]

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Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature. [Clin Dysmorphol. 2022]
Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.
Samur BM, Gümüş G, Canpolat M, Gümüş H, Per H, Cağlayan AO. Clin Dysmorphol. 2022 Jul 1; 31(3):125-131. Epub 2022 Jan 31.
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4. [Orphanet J Rare Dis. 2021]
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.
Chen Y, Fang B, Hu X, Guo R, Guo J, Fang K, Ni J, Li W, Qian S, Hao C. Orphanet J Rare Dis. 2021 Sep 29; 16(1):403. Epub 2021 Sep 29.
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature. [J Pediatr Endocrinol Metab. 2021]
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.
Porta F, Siri B, Chiesa N, Ricci F, Nika L, Sciortino P, Spada M. J Pediatr Endocrinol Metab. 2021 Feb 23; 34(2):261-266. Epub 2020 Nov 19.

RefSeq genomic sequence
See the genomic reference sequence for the SLC25A19 gene (NG_008274.1).
RefSeq mRNA
See reference mRNA sequence for the SLC25A19 gene (NM_021734.5).
RefSeq protein isoforms
See 21 reference sequence protein isoforms for the SLC25A19 gene.

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NP_068380 [Domain Mapping of Disease Mut...]
NP_068380
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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