KEGG   VARIANT: 51293v1
Entry
51293v1                      Variant                               
Name
CD320 deficiency
Type
Loss of function
Gene
CD320  CD320 molecule [KO:K06734]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606475
Network
nt06538  Cobalamin transport and metabolism
Disease
H00174  Methylmalonic aciduria
Reference
  Authors
Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher RC, Anastasio N, Watkins D, Rosenblatt DS
  Title
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
  Journal
Hum Mutat 31:924-9 (2010)
DOI:10.1002/humu.21297
LinkDB

DBGET integrated database retrieval system