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... See more...

Aliases for LMBRD1 Gene

Aliases for LMBRD1 Gene

  • LMBR1 Domain Containing 1 2 3 5
  • Lysosomal Cobalamin Transport Escort Protein LMBD1 3 4
  • Nuclear Export Signal-Interacting Protein 3 4
  • HDAg-L-Interacting Protein NESI 3 4
  • C6orf209 3 4
  • LMBD1 3 4
  • NESI 3 4
  • Hepatitis Delta Antigen-L Interacting Protein 3
  • Probable Lysosomal Cobalamin Transporter 3
  • Liver Regeneration P-53 Related Protein 3
  • Chromosome 6 Open Reading Frame 209 2
  • LMBR1 Domain-Containing Protein 1 4
  • BA810I22.1 2
  • FLJ11240 2
  • LMBRD1 5
  • MAHCF 3
  • CblF 2

External Ids for LMBRD1 Gene

Previous HGNC Symbols for LMBRD1 Gene

  • C6orf209

Previous GeneCards Identifiers for LMBRD1 Gene

  • GC06M070443
  • GC06M067576
  • GC06M070385

Summaries for LMBRD1 Gene

Entrez Gene Summary for LMBRD1 Gene

  • 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.[provided by RefSeq, Oct 2009]

GeneCards Summary for LMBRD1 Gene

LMBRD1 (LMBR1 Domain Containing 1) is a Protein Coding gene. Diseases associated with LMBRD1 include Methylmalonic Aciduria And Homocystinuria, Cblf Type and Hepatitis. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Cobalamin (Cbl, vitamin B12) transport and metabolism. Gene Ontology (GO) annotations related to this gene include insulin receptor binding and cobalamin binding.

UniProtKB/Swiss-Prot Summary for LMBRD1 Gene

  • 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).
  • [Isoform 3]: (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV).

Gene Wiki entry for LMBRD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LMBRD1 Gene

Genomics for LMBRD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LMBRD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J069864 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.5 486 5.1 EZH2 BCLAF1 ZNF600 JUND POLR2A NFIC ZIC2 ZBTB10 SIN3A TRIM22 COL19A1 HSALNG0051111 LMBRD1 NONHSAG044077.2
GH06J069795 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.2 +70.6 70640 3 SP1 MYC ZNF600 ZNF592 ATF2 KLF9 BRCA1 ZIC2 POLR2A ZBTB10 LMBRD1 GAPDHP42 piR-36588-368 piR-37895-148 COL19A1
GH06J069790 Promoter/Enhancer 0.7 EPDnew dbSUPER 250.2 +76.6 76604 0.1 IKZF1 MTA2 ARNT LMBRD1 piR-36588-368 piR-37895-148 COL19A1
GH06J069779 Enhancer 0.9 Ensembl ENCODE 12.3 +86.5 86521 2.7 ATF3 YY1 HOMEZ FOXA2 RXRA SAP130 RARA EBF1 ZBTB33 JUND LMBRD1 GAPDHP42 piR-36588-368 piR-37895-148 COL19A1
GH06J069770 Enhancer 0.3 dbSUPER 12.4 +94.9 94860 2.9 GABPB1 ZNF24 LMBRD1 GAPDHP42 piR-37895-148 piR-36588-368 COL19A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LMBRD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LMBRD1

Top Transcription factor binding sites by QIAGEN in the LMBRD1 gene promoter:
  • HOXA9
  • HOXA9B
  • IRF-7A
  • Meis-1
  • Meis-1a
  • Pax-4a
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for LMBRD1 Gene

Latest Assembly
chr6:69,672,757-69,867,236
(GRCh38/hg38)
Size:
194,480 bases
Orientation:
Minus strand

Previous Assembly
chr6:70,383,902-70,506,902
(GRCh37/hg19 by Entrez Gene)
Size:
123,001 bases
Orientation:
Minus strand

chr6:70,385,694-70,507,003
(GRCh37/hg19 by Ensembl)
Size:
121,310 bases
Orientation:
Minus strand

Genomic View for LMBRD1 Gene

Genes around LMBRD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMBRD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMBRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMBRD1 Gene

Proteins for LMBRD1 Gene

  • Protein details for LMBRD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUN5-LMBD1_HUMAN
    Recommended name:
    Lysosomal cobalamin transport escort protein LMBD1
    Protein Accession:
    Q9NUN5
    Secondary Accessions:
    • A8K204
    • E1P531
    • Q5VUN6
    • Q86Y70
    • Q96FW4
    • Q9BY56
    • Q9NZD6

    Protein attributes for LMBRD1 Gene

    Size:
    540 amino acids
    Molecular mass:
    61389 Da
    Quaternary structure:
    • [Isoform 3]: (Microbial infection) Interacts with hepatitis delta virus NES (HDAg-L).
    • Interacts with ABCD4; this interaction induces the translocation of ABCD4 from the endoplasmic reticulum to the lysosome (PubMed:27456980). Interacts with ABCD4 and MMACHC; this interaction ensures the transport of cobalamin from the lysosome to the cytoplasm (PubMed:25535791).
    SequenceCaution:
    • Sequence=AAK26247.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for LMBRD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMBRD1 Gene

Post-translational modifications for LMBRD1 Gene

  • N-glycosylated.
  • Glycosylation at Asn78, Asn88, Asn170, Asn347, Asn448, and Asn457
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LMBD1_HUMAN (1628)

Antibodies for research

  • Abcam antibodies for LMBRD1
  • Boster Bio Antibodies for LMBRD1

No data available for DME Specific Peptides for LMBRD1 Gene

Domains & Families for LMBRD1 Gene

Gene Families for LMBRD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for LMBRD1 Gene

Suggested Antigen Peptide Sequences for LMBRD1 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear export signal-interacting protein (LMBD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NUN5

UniProtKB/Swiss-Prot:

LMBD1_HUMAN :
  • Belongs to the LIMR family. LMBRD1 subfamily.
Family:
  • Belongs to the LIMR family. LMBRD1 subfamily.
genes like me logo Genes that share domains with LMBRD1: view

Function for LMBRD1 Gene

Molecular function for LMBRD1 Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot Function:
[Isoform 3]: (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV).

Phenotypes From GWAS Catalog for LMBRD1 Gene

Gene Ontology (GO) - Molecular Function for LMBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005158 insulin receptor binding IEA --
GO:0005515 protein binding IPI 25535791
GO:0015420 cobalamin-transporting ATPase activity TAS --
GO:0031419 cobalamin binding IEA --
genes like me logo Genes that share ontologies with LMBRD1: view
genes like me logo Genes that share phenotypes with LMBRD1: view

Human Phenotype Ontology for LMBRD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LMBRD1 Gene

MGI Knock Outs for LMBRD1:
  • Lmbrd1 Lmbrd1<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMBRD1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LMBRD1 Gene

Localization for LMBRD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMBRD1 Gene

Endoplasmic reticulum membrane. Lysosome membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMBRD1 gene
Compartment Confidence
lysosome 5
plasma membrane 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LMBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005774 vacuolar membrane IBA 21873635
GO:0005789 endoplasmic reticulum membrane IDA 27456980
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with LMBRD1: view

Pathways & Interactions for LMBRD1 Gene

genes like me logo Genes that share pathways with LMBRD1: view

Interacting Proteins for LMBRD1 Gene

Gene Ontology (GO) - Biological Process for LMBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009235 cobalamin metabolic process TAS --
GO:0015889 cobalamin transport IEA --
GO:0016032 viral process IEA --
GO:0061462 protein localization to lysosome IDA 27456980
GO:0072665 protein localization to vacuole IBA 21873635
genes like me logo Genes that share ontologies with LMBRD1: view

No data available for SIGNOR curated interactions for LMBRD1 Gene

Drugs & Compounds for LMBRD1 Gene

No Compound Related Data Available

Transcripts for LMBRD1 Gene

mRNA/cDNA for LMBRD1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
37 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMBRD1

Alternative Splicing Database (ASD) splice patterns (SP) for LMBRD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: -
SP2:
SP3: - - - -

Relevant External Links for LMBRD1 Gene

GeneLoc Exon Structure for
LMBRD1

Expression for LMBRD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LMBRD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LMBRD1 Gene

This gene is overexpressed in Amniocyte (13.8), Skin (7.5), and Spinal cord (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LMBRD1 Gene



Protein tissue co-expression partners for LMBRD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LMBRD1

SOURCE GeneReport for Unigene cluster for LMBRD1 Gene:

Hs.271643

mRNA Expression by UniProt/SwissProt for LMBRD1 Gene:

Q9NUN5-LMBD1_HUMAN
Tissue specificity: Isoform 3 is expressed in liver.

Evidence on tissue expression from TISSUES for LMBRD1 Gene

  • Nervous system(4.9)
  • Heart(4.4)
  • Bone marrow(4.2)
  • Kidney(2.5)
  • Blood(2.5)
  • Liver(2.2)
  • Stomach(2.2)
  • Intestine(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LMBRD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LMBRD1: view

Primer products for research

No data available for mRNA differential expression in normal tissues for LMBRD1 Gene

Orthologs for LMBRD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LMBRD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LMBRD1 29 30
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LMBRD1 29 30
  • 93.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LMBRD1 29 30
  • 91.89 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 90 (a)
OneToMany
-- 30
  • 82 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia LMBRD1 30
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Lmbrd1 29 16 30
  • 85.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lmbrd1 29
  • 85.45 (n)
Chicken
(Gallus gallus)
Aves LMBRD1 29 30
  • 77.78 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LMBRD1 30
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lmbrd1 29
  • 73.92 (n)
Str.13023 29
African clawed frog
(Xenopus laevis)
Amphibia LOC398468 29
Zebrafish
(Danio rerio)
Actinopterygii lmbrd1 29 30
  • 67.62 (n)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU02100 29
  • 41.41 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToOne
Species where no ortholog for LMBRD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LMBRD1 Gene

ENSEMBL:
Gene Tree for LMBRD1 (if available)
TreeFam:
Gene Tree for LMBRD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LMBRD1: view image
Alliance of Genome Resources:
Additional Orthologs for LMBRD1

Paralogs for LMBRD1 Gene

No data available for Paralogs for LMBRD1 Gene

Variants for LMBRD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LMBRD1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1009791 Uncertain Significance: Methylmalonic aciduria and homocystinuria type cblF 69,796,875(-) T/C
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
MISSENSE
1032798 Uncertain Significance: Methylmalonic aciduria and homocystinuria type cblF 69,713,653(-) G/T
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)
MISSENSE
840989 Uncertain Significance: Methylmalonic aciduria and homocystinuria type cblF 69,790,469(-) T/C
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
MISSENSE_VARIANT,FIVE_PRIME_UTR
842893 Uncertain Significance: Methylmalonic aciduria and homocystinuria type cblF 69,752,296(-) T/C
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
MISSENSE
847318 Pathogenic: Methylmalonic aciduria and homocystinuria type cblF 69,700,797(-) G/A
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LMBRD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LMBRD1 Gene

Variant ID Type Subtype PubMed ID
esv2038631 CNV deletion 18987734
esv2732253 CNV deletion 23290073
esv3451372 CNV duplication 20981092
esv3609422 CNV loss 21293372
esv999346 CNV deletion 20482838
nsv474410 CNV novel sequence insertion 20440878
nsv819863 CNV loss 19587683
nsv830682 CNV loss 17160897
nsv970139 CNV duplication 23825009
nsv970140 CNV duplication 23825009

Variation tolerance for LMBRD1 Gene

Residual Variation Intolerance Score: 33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.75; 89.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LMBRD1 Gene

Human Gene Mutation Database (HGMD)
LMBRD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMBRD1
Leiden Open Variation Database (LOVD)
LMBRD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMBRD1 Gene

Disorders for LMBRD1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for LMBRD1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
methylmalonic aciduria and homocystinuria, cblf type
  • mahcf
hepatitis
  • acute and subacute liver necrosis
homocystinuria
  • cbs deficiency
disorders of intracellular cobalamin metabolism
donnai-barrow syndrome
  • faciooculoacousticorenal syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LMBD1_HUMAN
  • Methylmalonic aciduria and homocystinuria, cblF type (MAHCF) [MIM:277380]: An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12. {ECO:0000269 PubMed:19136951}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for LMBRD1

genes like me logo Genes that share disorders with LMBRD1: view

No data available for Genatlas for LMBRD1 Gene

Publications for LMBRD1 Gene

  1. Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1. (PMID: 27456980) Kawaguchi K … Imanaka T (Scientific reports 2016) 2 3 4
  2. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. (PMID: 19136951) Rutsch F … Nürnberg P (Nature genetics 2009) 2 3 4
  3. Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. (PMID: 25535791) Deme JC … Coulton JW (Molecular membrane biology 2014) 3 4
  4. Disorders of Intracellular Cobalamin Metabolism (PMID: 20301503) Sloan JL … Venditti CP (GeneReviews® 2008) 3 72
  5. Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus. (PMID: 15956556) Wang YH … Chang MF (Journal of virology 2005) 3 4

Products for LMBRD1 Gene

Sources for LMBRD1 Gene