LMBRD1

LMBRD1
Identificadores
Nomes alternativosLMBRD1
IDs externosOMIM: 612625 HomoloGene: 10156 GeneCards: LMBRD1
Doenças Geneticamente Relacionadas
methylmalonic aciduria and homocystinuria type cblF[1]
Wikidata
Ver/Editar Humano

O provável transportador de cobalamina lisossomal é uma proteína que em humanos é codificada pelo gene LMBRD1.[3][4]

Referências

  1. «Doenças geneticamente associadas a LMBRD1 ver/editar referências no wikidata» 
  2. «Human PubMed Reference:» 
  3. Rutsch F, Gailus S, Miousse IR, Suormala T, Sagne C, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P (janeiro de 2009). «Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism». Nat Genet. 41 (2): 234–9. PMID 19136951. doi:10.1038/ng.294 
  4. «Entrez Gene: LMBRD1 LMBR1 domain containing 1» 

Leitura adicional

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