LMBRD1 wt Allele

Preferred Label : LMBRD1 wt Allele;

NCIt synonyms : BM-021; CD001; bA810I22.1; FLJ11240; Probable Lysosomal Cobalamin Transporter Gene; C6orf209; NESI; MSTP044; LMBD1; Liver Regeneration P-53 Related Protein Gene; MAHCF; CblF; LMBR1 Domain Containing 1 wt Allele; Chromosome 6 Open Reading Frame 209 Gene; Hepatitis Delta Antigen-L Interacting Protein Gene;

NCIt definition : Human LMBRD1 wild-type allele is located in the vicinity of 6q13 and is approximately 194 kb in length. This allele, which encodes lysosomal cobalamin transport escort protein LMBD1, is involved in the transport of cobalamin from the lysosome to the cytoplasm. Mutation of the gene is associated with cblF type methylmalonic aciduria and homocystinuria.;

GenBank Accession Number : AF113224;

Details

Origin ID

C202919;

OMIM relation
- Lmbr1 domain-containing protein 1: lmbrd1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6q13 [NCIt concept]
gene_plays_role_in_process
- Endocytotic Process [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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