LMBD1

Isoform 3 of Lysosomal cobalamin transport escort protein LMBD1; Isoform 4 of Lysosomal cobalamin transport escort protein LMBD1; Isoform 2 of Lysosomal cobalamin transport escort protein LMBD1;Lysosomal cobalamin transport escort protein LMBD1

Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors (PubMed:19136951). Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome (PubMed:27456980). Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791). Acts as an adapter protein which plays an important role in mediating and regulating the internalization of the insulin receptor (INSR) (By similarity). Involved in clathrin-mediated endocytosis of INSR via its interaction with adapter protein complex 2 (By similarity). Essential for the initiation of gastrulation and early formation of mesoderm structures during embryogenesis (By similarity). ; [Isoform 3]: (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV).

    Matrix Type

    • Tissue/Cells

    Gene Symbol

    • LMBRD1

    UniProt ID

    • Q9NUN5
    • Q9NUN5-3
    • Q9NUN5-4

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