Cubilin

Alternative Names

  • CUBN
  • Intrinsic Factor-Cobalamin Receptor
  • Intestinal Intrinsic Factor Receptor
  • IFCR

Associated Diseases

Megaloblastic Anemia 1
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OMIM Number

602997

NCBI Gene ID

8029

Uniprot ID

O60494

Length

306,284 bases

No. of Exons

71

No. of isoforms

1

Protein Name

Cubilin

Molecular Mass

398736 Da

Amino Acid Count

3623

Genomic Location

chr10:16,823,966-17,130,249

Gene Map Locus
10p13

Description

The Cubilin gene encodes a protein that functions as a receptor for intrinsic factor-vitamin B12 complexes and helps in the uptake of lipoprotein, vitamin and iron. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001081.3:c.434G>ASaudi Arabiachr10:17123643Likely PathogenicPathogenicMegaloblastic Anemia 1NG_008967.1:g.11175G>A; NM_001081.3:c.434G>A; NP_001072.2:p.Gly145Glu38683378856340
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