Reaction: Defective CBLIF does not bind Cbl
- in pathway: Defective CBLIF causes IFD
Gastric parietal cells secrete cobalamin binding intrinsic factor (CBLIF aka gastric intrinsic factor GIF) which binds tightly to free cobalamin (Cbl). Cbl must bind to CBLIF to be absorbed from the small intestine. Defects in CBLIF cause hereditary intrinsic factor deficiency (IFD, aka congenital pernicious anemia; MIM:261000). IFD is an autosomal recessive disorder characterized by megaloblastic anemia. The splice site mutation c.79+1G>A (p.S27Cfs*23) is apparently a Western Caucasian founder mutation (Tanner et al. 2005, Tanner et al. 2012).
Reaction - small molecule participants:
Cbl [extracellular region]
Reactome.org reaction link: R-HSA-3315455
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Reaction input - small molecules:
cob(III)alamin
Reaction output - small molecules:
Reactome.org link: R-HSA-3315455