Identity
HGNC
LOCATION
6q13
LOCUSID
ALIAS
C6orf209,LMBD1,MAHCF,NESI
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55788
MIM: 612625
HGNC: 23038
Ensembl: ENSG00000168216
Variants:
dbSNP: 55788
ClinVar: 55788
TCGA: ENSG00000168216
COSMIC: LMBRD1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28572511 | 2017 | Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1. | 11 |
| 28572511 | 2017 | Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1. | 11 |
| 27456980 | 2016 | Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1. | 15 |
| 27456980 | 2016 | Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1. | 15 |
| 25535791 | 2014 | Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. | 11 |
| 25535791 | 2014 | Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. | 11 |
| 23175358 | 2013 | Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen. | 5 |
| 24078630 | 2013 | LMBD1 protein serves as a specific adaptor for insulin receptor internalization. | 17 |
| 23175358 | 2013 | Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen. | 5 |
| 24078630 | 2013 | LMBD1 protein serves as a specific adaptor for insulin receptor internalization. | 17 |
| 20446115 | 2011 | LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism. | 12 |
| 21303734 | 2011 | Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism. | 7 |
| 20446115 | 2011 | LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism. | 12 |
| 21303734 | 2011 | Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism. | 7 |
| 20127417 | 2010 | A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. | 11 |
Citation
Dessen P
LMBRD1 (LMBR1 domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-07-01
Online version: http://atlasgeneticsoncology.org/gene/54068/lmbrd1-(lmbr1-domain-containing-1)
