B12QTL1
MCID: VTM031
MIFTS: 14

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 57 29 6 39
B12qtl1 57

Classifications:



External Ids:

OMIM® 57 612542

Summaries for Vitamin B12 Plasma Level Quantitative Trait Locus 1

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Vitamin B12 Plasma Level Quantitative Trait Locus 1, also known as b12qtl1, is related to fucosyltransferase 6 deficiency. 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

Diseases in the Vitamin B12 Plasma Level Quantitative Trait Locus 1 family:

Vitamin B6 Plasma Level Quantitative Trait Locus 1

Diseases related to Vitamin B12 Plasma Level Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fucosyltransferase 6 deficiency 9.5 LOC105447645 FUT2

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

Clinical features from OMIM®:

612542 (Updated 20-May-2021)

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 29 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 PMID Year
1
Common variants of FUT2 are associated with plasma vitamin B12 levels. 57 6
18776911 2008
2
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. 57
19303062 2009
3
Prospective study of plasma folate, vitamin B12, and cognitive function and decline. 57
17028506 2006
4
Human susceptibility and resistance to Norwalk virus infection. 6
12692541 2003
5
Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency. 6
8755920 1996
6
A second nonsecretor allele of the blood group alpha(1,2)fucosyl-transferase gene (FUT2). 6
8928486 1996
7
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. 6
7876235 1995
8
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. 6
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 Name Type Significance ClinVarId dbSNP ID Position
1 FUT2 , LOC105447645 NM_000511.6(FUT2):c.461G>A (p.Trp154Ter) SNV association 12945 rs601338 GRCh37: 19:49206674-49206674
GRCh38: 19:48703417-48703417
2 FUT2 , LOC105447645 NM_000511.6(FUT2):c.604C>T (p.Arg202Ter) SNV Pathogenic 225366 rs1800028 GRCh37: 19:49206817-49206817
GRCh38: 19:48703560-48703560

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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