B12QTL1
MCID: VTM031
MIFTS: 11

Vitamin B12 Plasma Level Quantitative Trait Locus 1 (B12QTL1)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Vitamin B12 Plasma Level Quantitative Trait Locus 1

MalaCards integrated aliases for Vitamin B12 Plasma Level Quantitative Trait Locus 1:

Name: Vitamin B12 Plasma Level Quantitative Trait Locus 1 58 30 6 41
B12qtl1 58

Classifications:



External Ids:

OMIM 58 612542

Summaries for Vitamin B12 Plasma Level Quantitative Trait Locus 1

OMIM : 58 The plasma level of vitamin B12 is a modifiable quantitative trait associated with many diseases (Hazra et al., 2008). Vitamin B12 found in meat and milk products is composed of corrin and cobalt rings and is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency. (612542)

MalaCards based summary : Vitamin B12 Plasma Level Quantitative Trait Locus 1, is also known as b12qtl1. An important gene associated with Vitamin B12 Plasma Level Quantitative Trait Locus 1 is FUT2 (Fucosyltransferase 2).

Related Diseases for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Symptoms & Phenotypes for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Clinical features from OMIM:

612542

Drugs & Therapeutics for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Genetic Tests for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Genetic tests related to Vitamin B12 Plasma Level Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 Vitamin B12 Plasma Level Quantitative Trait Locus 1 30 FUT2

Anatomical Context for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Publications for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Articles related to Vitamin B12 Plasma Level Quantitative Trait Locus 1:

# Title Authors Year
1
Common variants of FUT2 are associated with plasma vitamin B12 levels. ( 18776911 )
2008
2
Human susceptibility and resistance to Norwalk virus infection. ( 12692541 )
2003
3
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. ( 7876235 )
1995
4
Molecular cloning of a human genomic region containing the H blood group alpha(1,2)fucosyltransferase gene and two H locus-related DNA restriction fragments. Isolation of a candidate for the human Secretor blood group locus. ( 7876234 )
1995

Variations for Vitamin B12 Plasma Level Quantitative Trait Locus 1

ClinVar genetic disease variations for Vitamin B12 Plasma Level Quantitative Trait Locus 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FUT2 NM_000511.5(FUT2): c.461G> A (p.Trp154Ter) single nucleotide variant Benign, association rs601338 GRCh37 Chromosome 19, 49206674: 49206674
2 FUT2 NM_000511.5(FUT2): c.461G> A (p.Trp154Ter) single nucleotide variant Benign, association rs601338 GRCh38 Chromosome 19, 48703417: 48703417
3 FUT2 NM_000511.5(FUT2): c.604C> T (p.Arg202Ter) single nucleotide variant Pathogenic rs1800028 GRCh38 Chromosome 19, 48703560: 48703560
4 FUT2 NM_000511.5(FUT2): c.604C> T (p.Arg202Ter) single nucleotide variant Pathogenic rs1800028 GRCh37 Chromosome 19, 49206817: 49206817

Expression for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Search GEO for disease gene expression data for Vitamin B12 Plasma Level Quantitative Trait Locus 1.

Pathways for Vitamin B12 Plasma Level Quantitative Trait Locus 1

GO Terms for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Sources for Vitamin B12 Plasma Level Quantitative Trait Locus 1

3 CDC
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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