Reactome: A Curated Pathway Database
Results 1 to 10 of 25
Pathways (23) Reactions (1) Proteins (1) Others (0)
Protein: UniProt:Q9NQ40 SLC52A3 (Homo sapiens)
Last changed: 2014-11-26 10:20:21

Pathway: Disease (Homo sapiens)
Biological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular viewpoint, human disease pathways have three mechanistic causes: the inclusion of microbially-expressed proteins, altered functions of human proteins, or changed expression levels of otherwise functionally
Last changed: 2014-11-21 19:49:01

Pathway: Metabolism (Homo sapiens)
Metabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as the inactivation and elimination of toxic ones generated endogenously or present in the extracellular environment. The processes of energy metabolism can be classified into two groups according to whether the
Last changed: 2014-11-21 19:49:01

Reaction: SLC52A3 transports extracellular RIB to cytosol (Homo sapiens)
Solute carrier family 52, riboflavin transporter, member 3 (SLC52A3) transports riboflavin (RIB) from the lumen into small intestine epithelial cells (Yao et al. 2010). Activity is inhibited by riboflavin analogues such as flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) (Yao et al. 2010). Defects in SLC52A3 cause Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1; MIM:211530). BVVLS1 is
Last changed: 2014-11-25 21:08:03

Pathway: Defective TCN2 causes hereditary megaloblastic anemia (Homo sapiens)
Defective transcobalamin II (produced by the TCN2 gene) results in TCN2 deficiency (MIM:275350), an autosomal recessive disorder with early-onset in infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. If left untreated, the disorder can result in mental retardation and neurologic abnormalities (Haberle et al. 2009)
Last changed: 2014-11-21 19:49:01

Pathway: Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC (Homo sapiens)
Defects in MMACHC cause methylmalonic aciduria and homocystinuria type cblC (MMAHCC; MIM:277400). MMAHCC is the most common disorder of cobalamin metabolism and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, haematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings (
Last changed: 2014-11-21 19:49:01

Pathway: Defective MTR causes methylmalonic aciduria and homocystinuria type cblG (Homo sapiens)
Defects in MTR cause methylcobalamin deficiency type G (cblG; MIM:250940), an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria (Leclerc et al. 1996, Gulati et al. 1996, Watkins et al. 2002)
Last changed: 2014-11-21 19:49:01

Pathway: Defective GIF causes intrinsic factor deficiency (Homo sapiens)
Defects in GIF cause hereditary intrinsic factor deficiency (IFD, aka congenital pernicious anemia; MIM:261000). IFD is an autosomal recessive disorder characterized by megaloblastic anemia (Tanner et al. 2005)
Last changed: 2014-11-21 19:49:01

Pathway: Defective CUBN causes hereditary megaloblastic anemia 1 (Homo sapiens)
Defects in the CUBN gene cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Finnish type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Finnish cases described by Grasbeck et al. were caused by defects in CUBN (Grasbeck et al. 1960). The resultant malabsorption of Cbl (cobalamin, vitamin B12) leads to impaired B12-dependent folate metabolism and ultimately impaired thymine synt
Last changed: 2014-11-21 19:49:01

Pathway: Defective CD320 causes methylmalonic aciduria (Homo sapiens)
Defects in CD320 cause methylmalonic aciduria type TCblR (MMATC aka methylmalonic aciduria; MIM:613646) resulting in elevated methylmalonic acid (MMA) and homocysteine (HCYS) in newborns (Quadros et al. 2010)
Last changed: 2014-11-21 19:49:01

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