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FLASH GENE
Symbol LMBRD1 contributors: mct - updated : 10-11-2017
HGNC name LMBR1 domain containing 1
HGNC id 23038
ASSOCIATED DISORDERS
corresponding disease(s) MMACHF
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
in human LMBRD1 and ABCD4 prevent lysosomal export of vitamin B(12) to the cytoplasm, impairing the vitamin B(12)-dependent enzymes methionine synthase and methylmalonyl-CoA mutase
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • complete loss of Lmbrd1 function is accompanied by early embryonic death in mice