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LMBRD1 encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. De plus, nous expédions LMBR1 Domain Containing 1 Anticorps (20) et LMBR1 Domain Containing 1 Kits (1) et beaucoup plus de produits pour cette protéine.
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endogenous ABCD4 (Montrer ABCD4 Protéines) was localized to both lysosomes and the ER, and its lysosomal localization was disturbed by knockout of LMBRD1
Data suggest that ABCD4 lysosomal targeting depends on co-expression of and interaction with LMBRD1; mutations in LMBRD1 and ABCD4 that result in cobalamin metabolism disorders cblF and cblJ (or mutations in ATPase domain) disrupt interactions between LMBRD1 and ABCD4. (LMBRD1 = nuclear export signal-interacting protein; ABCD4 = ATP-binding cassette, sub-family D (ALD), member 4)
Results propose a model whereby membrane-bound LMBD1 and ABCD4 (Montrer ABCD4 Protéines) facilitate the vectorial delivery of lysosomal vitamin B12 (Montrer NDUFB3 Protéines) to cytoplasmic MMACHC (Montrer MMACHC Protéines).
LMBD1 plays an imperative role in mediating and regulating the endocytosis of the IR.
These data indicate that by forming complexes with lamin A/C (Montrer LMNA Protéines) and nucleoporins, NESI facilitates the CRM1 (Montrer XPO1 Protéines)-independent nuclear export of large hepatitis delta antigen.
novel mutations in LMBRD1 in three patients
LMBRD1: the gene for the cblF defect of vitamin B metabolism.
a LMBRD1 mutation causes the cblF defect of vitamin B(12) metabolism in a Turkish patient [case report]
LMBRD1 is the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamin.
By studying the heterozygous knockout of Lmbrd1 (Lmbrd1(+/-)), we discovered that lack of Lmbrd1 not only resulted in the increase of cardiac-glucose uptake, pathological consequences were also observed. The results suggested that Lmbrd1 gene not only plays a significant role in mediating the energy homeostasis in cardiac tissue, it may also be a key factor in the regulation of cardiac function in mice.
the physiological function of LMBRD1 during embryogenesis, is reported.
This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.
LMBR1 domain-containing protein 1
, probable lysosomal cobalamin transporter
, LMBR1 domain containing 1
, HDAg-L-interacting protein NESI
, hepatitis delta antigen-L interacting protein
, liver regeneration p-53 related protein
, nuclear export signal-interacting protein
, protein N90b