LMBRD1 LMBR1 domain containing 1
Gene ID: 55788, updated on 27-Aug-2024Gene type: protein coding
Also known as: NESI; LMBD1; MAHCF; C6orf209
- See all available tests in GTR for this gene
- Go to complete Gene record for LMBRD1
- Go to Variation Viewer for LMBRD1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association of lipid-lowering response to statins in combined study populations. GeneReviews: Not available | |
| Methylmalonic aciduria and homocystinuria type cblF | See labs |
Genomic context
- Location:
- 6q13
- Sequence:
- Chromosome: 6; NC_000006.12 (69674010..69797010, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LMBRD1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LMBRD1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- ZJU-CGGM Database
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