Defective CBLIF does not bind Cbl

Stable Identifier
R-HSA-3315455
Type
Reaction [transition]
Species
Homo sapiens
Compartment
extracellular region
ReviewStatus
5/5
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Defective CBLIF does not bind Cbl
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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
Participants
Input
Participates
as an event of
Normal reaction
CBLIF binds RCbl (Homo sapiens)
Functional status

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

Normal Entity
Disease Entity
Status
Disease
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
Authored
Jassal, B  (2013-04-25)
Reviewed
Watkins, D  (2013-08-14)
Created
Jassal, B  (2013-04-25)
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