Defective CBLIF does not bind Cbl

Stable Identifier
Reaction [transition]
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
15738392 Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Oner, C, Tanner, SM, Li, Z, de la Chapelle, A, Altay, C, Perko, JD, Cetin, M, Ismail, EA, Gräsbeck, R, Yurtsever, Z, David, KL, Faivre, L

Proc. Natl. Acad. Sci. U.S.A. 2005
22929189 Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

Liyanarachchi, S, Sturm, AC, Tanner, SM, de la Chapelle, A, Baack, EC

Orphanet J Rare Dis 2012
Normal reaction
Functional status

Loss of function of CBLIF S27Cfs*23 [extracellular region]

Name Identifier Synonyms
megaloblastic anemia DOID:13382 megaloblastic anemia, Megaloblastic anemia (disorder), Anaemia - megaloblastic, Megaloblastic anemia NOS (disorder), Megaloblastic anaemia, ANEMIA MEGALOBLASTIC, Megaloblastic anemia NOS, Megaloblastic Anemia, Megaloblastic anemia NOS (disorder), Anaemia - megaloblastic, Megaloblastic anemia, NOS, Megaloblastic anemia NOS
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