DISEASES

Disease-gene associations mined from literature

Literature associating LMBRD1 and methylmalonic acidemia

LMBRD1 [ENSP00000359609]

Nuclear export signal-interacting protein; Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV).

Synonyms:  LMBRD1,  LMBRD1p,  hLMBRD1,  Q9NUN5,  BM-021 ...

Linkouts:  STRING  Pharos  UniProt  OMIM