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UniProt functional annotation for P20062 | ||
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| UniProt code: P20062. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells. {ECO:0000269|PubMed:8443384}. |
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| Subunit: | |
Interacts with CD320 (via LDL-receptor class A domains). {ECO:0000269|PubMed:27411955}. |
| Subcellular location: | |
Secreted {ECO:0000269|PubMed:3782074, ECO:0000269|PubMed:8443384}. |
| Polymorphism: | |
Pro/Arg-259 polymorphism affects TCN2 plasma concentration and may interfere in vitamin B(12) cellular availability and homocysteine metabolism (PubMed:11159542). {ECO:0000269|PubMed:11159542}. |
| Disease: | |
Transcobalamin II deficiency (TCN2 deficiency) [MIM:275350]: Results in various forms of anemia. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the eukaryotic cobalamin transport proteins family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.