RecName: Full=Transcobalamin-2; Short=TC-2; AltName: Full=Transcobalam - Protein

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"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene". [Mol Genet Genomic Med. 2024]
"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".
Oshi MAM, Alfaifi J, Alqahtani YAM, Aljabri MF, Kamal NM, Althopaity J, Althobaiti KA, Almalki AM, Abosabie SAS, Abosabie SA, et al. Mol Genet Genomic Med. 2024 Jan; 12(1):e2282. Epub 2023 Oct 6.
Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature. [J Pediatr Endocrinol Metab. 2020]
Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.
Kose E, Besci O, Gudeloglu E, Suncak S, Oymak Y, Ozen S, Isguder R. J Pediatr Endocrinol Metab. 2020 Nov 26; 33(11):1487-1499.
Relationship between cobalt transporter II gene rs9606756 site mutant and serum homocysteine level and recurrent cerebral infarction in young and middle-aged people. [Minerva Med. 2021]
Relationship between cobalt transporter II gene rs9606756 site mutant and serum homocysteine level and recurrent cerebral infarction in young and middle-aged people.
Liu J, Jiang Y, Liu D, Zhang H, Chen T, Zhang G, Liu H, DU S, Lin Z, Jin Y, et al. Minerva Med. 2021 Apr; 112(2):261-268. Epub 2020 Mar 20.

RefSeq genomic sequence
See the genomic reference sequence for the TCN2 gene (NG_007263.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the TCN2 gene.

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P20062 [Domain Mapping of Disease Mut...]
P20062
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

RecName: Full=Transcobalamin-2; Short=TC-2; AltName: Full=Transcobalamin II; Sho...
RecName: Full=Transcobalamin-2; Short=TC-2; AltName: Full=Transcobalamin II; Short=TC II; Short=TCII; Flags: Precursor
gi|224471876|sp|P20062.3|TCO2_HUMAN

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