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SNP information rs1801239

Normal allele: TT

Hereditary malabsorption of cobalamin. The gene encodes a vitamin B12 receptor factor, cubilin, and causes hereditary megaloblastic anaemia.

Polymorphism rs1801239 is related to topics like this:

Mthfr and B12

Many individuals carry MTHFR mutations without being aware of their MTHFR status, while only a...

Research and publications:

  10080186   Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

  21355061   CUBN is a gene locus for albuminuria.

  22574174   CUBN as a novel locus for end-stage renal disease: insights from renal transplantation.

  22929189   Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.

  23114252   Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations.

  24052458   The association of a single-nucleotide polymorphism in CUBN and the risk of albuminuria and cardiovascular disease.

  27197912   Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans.

  27711207   Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia.

  27871254   Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53.

  30557881   Cubilin Single Nucleotide Polymorphism Variants are Associated with Macroangiopathy While a Matrix Metalloproteinase-9 Single Nucleotide Polymorphism Flip-Flop may Indicate Susceptibility of Diabetic Nephropathy in Type-2 Diabetic Patients.

  31231424   Genetic and Epigenetic Studies in Diabetic Kidney Disease.

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