KEGG VARIANT: 8029v1

VARIANT: 8029v1

Entry

8029v1                      Variant

Name

CUBN deficiency

Type

Loss of function

Gene

CUBN cubilin [KO:K14616]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 602997

Network

nt06538 Cobalamin transport and metabolism

Disease

Vitamin B12 deficiency anaemia

Reference

Authors

Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R

Title

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

Journal

Nat Genet 21:309-13 (1999)
DOI:10.1038/6831

LinkDB

DBGET integrated database retrieval system