Cobalamin (Cbl, vitamin B12) transport and metabolism

Pathway network for the Cobalamin (Cbl, vitamin B12) transport and metabolism SuperPath

Sources:

Reactome
WikiPathways

Pathways in the Cobalamin (Cbl, vitamin B12) transport and metabolism SuperPath

#	Name	Source	Genes
1	Cobalamin (Cbl, vitamin B12) transport and metabolism	Reactome	ABCC1 ABCD4 AMN CBLIF CD320 CTRB1 CTRB2 CUBN LDLRAP1 LMBRD1 LRP2 MMAA MMAB MMACHC MMADHC MMUT MTR MTRR PRSS1 PRSS3 TCN1 TCN2 (see all 22) (see less)
2	Defects in vitamin and cofactor metabolism	Reactome	ABCD4 ACACA AMN BTD CBLIF CD320 CUBN HLCS LMBRD1 MCCC1 MCCC2 MMAA MMAB MMACHC MMADHC MMUT MTR MTRR PC PCCA PCCB TCN2 (see all 22) (see less)
3	Defects in cobalamin (B12) metabolism	Reactome	ABCD4 AMN CBLIF CD320 CUBN LMBRD1 MMAA MMAB MMACHC MMADHC MMUT MTR MTRR TCN2 (see all 14) (see less)
4	Vitamin B12 disorders	WikiPathways	AMN CBLIF CD320 CUBN MMAA MMAB MMACHC MMADHC MMUT MTR MTRR TCN1 TCN2 (see all 13) (see less)
5	Uptake of dietary cobalamins into enterocytes	Reactome	ABCD4 AMN CBLIF CTRB1 CTRB2 CUBN LMBRD1 PRSS1 PRSS3 TCN1 (see all 10) (see less)
6	Transport of RCbl within the body	Reactome	ABCC1 ABCD4 CD320 LDLRAP1 LMBRD1 LRP2 TCN1 TCN2 (see all 8) (see less)
7	Cobalamin (Cbl) metabolism	Reactome	MMAA MMAB MMACHC MMADHC MMUT MTR MTRR (see all 7) (see less)
8	Defective MMADHC causes MMAHCD	Reactome	MMACHC MMADHC
9	Defective CD320 causes MMATC	Reactome	CD320 TCN2
10	Defective ABCD4 causes MAHCJ	Reactome	ABCD4 LMBRD1
11	Defective MMAB causes MMA, cblB type	Reactome	MMAB
12	Defective MMACHC causes MAHCC	Reactome	MMACHC
13	Defective TCN2 causes TCN2 deficiency	Reactome	TCN2

Gene overlap in member pathways for Cobalamin (Cbl, vitamin B12) transport and metabolism SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	MMACHC	Metabolism Of Cobalamin Associated C	Protein Coding	7
2	TCN2	Transcobalamin 2	Protein Coding	7
3	MMADHC	Metabolism Of Cobalamin Associated D	Protein Coding	6
4	MMAB	Metabolism Of Cobalamin Associated B	Protein Coding	6
5	CD320	CD320 Molecule	Protein Coding	6
6	LMBRD1	LMBR1 Domain Containing 1	Protein Coding	6
7	ABCD4	ATP Binding Cassette Subfamily D Member 4	Protein Coding	6
8	MMAA	Metabolism Of Cobalamin Associated A	Protein Coding	5
9	CBLIF	Cobalamin Binding Intrinsic Factor	Protein Coding	5
10	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	5
11	MTRR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase	Protein Coding	5
12	MMUT	Methylmalonyl-CoA Mutase	Protein Coding	5
13	CUBN	Cubilin	Protein Coding	5
14	AMN	Amnion Associated Transmembrane Protein	Protein Coding	5
15	TCN1	Transcobalamin 1	Protein Coding	4
16	CTRB1	Chymotrypsinogen B1	Protein Coding	2
17	LDLRAP1	Low Density Lipoprotein Receptor Adaptor Protein 1	Protein Coding	2
18	LRP2	LDL Receptor Related Protein 2	Protein Coding	2
19	ABCC1	ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group)	Protein Coding	2
20	CTRB2	Chymotrypsinogen B2	Protein Coding	2
21	PRSS1	Serine Protease 1	Protein Coding	2
22	PRSS3	Serine Protease 3	Protein Coding	2
23	ACACA	Acetyl-CoA Carboxylase Alpha	Protein Coding	1
24	HLCS	Holocarboxylase Synthetase	Protein Coding	1
25	PC	Pyruvate Carboxylase	Protein Coding	1
26	PCCA	Propionyl-CoA Carboxylase Subunit Alpha	Protein Coding	1
27	PCCB	Propionyl-CoA Carboxylase Subunit Beta	Protein Coding	1
28	MCCC1	Methylcrotonyl-CoA Carboxylase Subunit 1	Protein Coding	1
29	MCCC2	Methylcrotonyl-CoA Carboxylase Subunit 2	Protein Coding	1
30	BTD	Biotinidase	Protein Coding	1

Disorders associated with Cobalamin (Cbl, vitamin B12) transport and metabolism SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Vitamin metabolic disorder	Direct
2	Vitamin b12 deficiency	Direct
3	Methylmalonic aciduria and homocystinuria, cbld type	Direct
4	Methylmalonic acidemia	Direct
5	Homocystinuria	Direct
6	Methylmalonic aciduria and homocystinuria, cblc type	Direct
7	Megaloblastic anemia	Direct
8	Isolated methylmalonic acidemia	Enrichment	MMAA, MMAB, MMUT	8.53
9	Disorders of intracellular cobalamin metabolism	Enrichment	MMACHC, MTR	6.64
10	Homocystinuria-megaloblastic anemia, cblg type	Enrichment	MTR, MTRR	6.16
11	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	Enrichment	MMACHC, MMUT	6.16
12	Neural tube defects, folate-sensitive	Enrichment	MTR, MTRR	5.86
13	Imerslund-grasbeck syndrome 1	Enrichment	AMN, CUBN	4.99
14	Methylmalonic aciduria, cbla type	Enrichment	MMAA	3.29
15	Homocystinuria-megaloblastic anemia, cbld type	Enrichment	MMADHC	3.29
16	Methylmalonic aciduria, cbld type	Enrichment	MMADHC	3.29
17	Vitamin b12-responsive methylmalonic acidemia	Enrichment	MMAA	3.29
18	Homocystinuria without methylmalonic aciduria	Enrichment	MTRR	3.29
19	Methylmalonic aciduria and homocystinuria	Enrichment	MMACHC	3.29
20	Transcobalamin i deficiency	Enrichment	TCN1	3.23
21	Methylmalonic aciduria and homocystinuria, cblf type	Enrichment	LMBRD1	3.23
22	Donnai-barrow syndrome	Enrichment	LRP2	3.23
23	Deafness, autosomal dominant 77	Enrichment	ABCC1	3.23
24	Methylmalonic aciduria and homocystinuria, cblj type	Enrichment	ABCD4	3.23
25	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	Enrichment	CD320	3.23
26	Methylmalonic acidemia due to transcobalamin receptor defect	Enrichment	CD320	3.23
27	Prolactin-producing pituitary gland adenoma	Enrichment	LRP2	3.23
28	Intrinsic factor deficiency	Enrichment	CBLIF	3.13
29	Congenital intrinsic factor deficiency	Enrichment	CBLIF	3.13
30	Methylmalonic aciduria, cblb type	Enrichment	MMAB	2.99
31	Homocystinuria-megaloblastic anemia, cble type	Enrichment	MTRR	2.99
32	Transcobalamin ii deficiency	Enrichment	TCN2	2.93
33	Non-syndromic syndactyly	Enrichment	LRP2	2.93
34	Trypsinogen deficiency	Enrichment	PRSS1	2.83
35	Hypercholesterolemia, familial, 4	Enrichment	LDLRAP1	2.75
36	Retinitis pigmentosa 91	Enrichment	MMACHC	2.69
37	Down syndrome	Enrichment	MTRR	2.69
38	Proteinuria, chronic benign	Enrichment	CUBN	2.66
39	Prolactinoma	Enrichment	LRP2	2.63
40	Liver failure, infantile, transient	Enrichment	MMUT	2.59
41	Imerslund-grasbeck syndrome 2	Enrichment	AMN	2.53
42	Pancytopenia	Enrichment	TCN2	2.45
43	Vitamin d-dependent rickets, type 2a	Enrichment	PRSS1	2.43
44	Homozygous familial hypercholesterolemia	Enrichment	LDLRAP1	2.33
45	Atypical hemolytic-uremic syndrome	Enrichment	MMACHC	2.11
46	Familial hypercholesterolemia	Enrichment	LDLRAP1	2.05
47	Chronic kidney disease	Enrichment	CUBN	2.02
48	Hereditary chronic pancreatitis	Enrichment	PRSS1	1.99
49	Pancreatitis, hereditary	Enrichment	PRSS1	1.90
50	Epilepsy	Enrichment	MTR	1.69
51	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ABCC1	1.52
52	Autism spectrum disorder	Enrichment	CUBN	1.11
53	Hereditary retinal dystrophy	Enrichment	LRP2, MMACHC	1.10
54	Fundus dystrophy	Enrichment	LRP2, MMACHC	1.10

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Cobalamin (Cbl, vitamin B12) transport and metabolism

Pathway Network for Cobalamin (Cbl, vitamin B12) transport and metabolism

Pathway network for the Cobalamin (Cbl, vitamin B12) transport and metabolism SuperPath

Member Pathways for Cobalamin (Cbl, vitamin B12) transport and metabolism

Pathways in the Cobalamin (Cbl, vitamin B12) transport and metabolism SuperPath

Gene overlap in member pathways for Cobalamin (Cbl, vitamin B12) transport and metabolism SuperPath

Associated Genes for Cobalamin (Cbl, vitamin B12) transport and metabolism

Associated Disorders for Cobalamin (Cbl, vitamin B12) transport and metabolism

Disorders associated with Cobalamin (Cbl, vitamin B12) transport and metabolism SuperPath

STRING Interaction Network for Cobalamin (Cbl, vitamin B12) transport and metabolism

Sources for Cobalamin (Cbl, vitamin B12) transport and metabolism