37 - Biochemical reactions of Folate coenzymes

Reaction	Coenzyme Form of Folate Involved and Single Carbon unit transferred	Importance
Formate activation	THF; -CHO group transferred.	Generation of 10-formyl-THF
Purine synthesis
Formation of glycinamide ribonucleotide	5,10-MethyleneTHF; -CHO group transferred	Formation of purines needed for DNA, RNA synthesis, but reactions  probably not rate limiting
Formylation of aminoimidazolecarboxamide-ribonucleotide (AICAR)	10-Formyl (CHO)THF;-CHO group transferred
Pyrimidine synthesis
Methylation of deoxyuridine monophosphate (dUMP) to thymidine monophosphate (dTMP)	5,10-MethyleneTHF;-CH3 group transferred.	Rate limiting in DNA synthesis
		Oxidizes THF to DHF
		Some breakdown of folate at the C-9–N-10 bond
Amino acid interconversion
Serine–glycine interconversion	THF; =CH2 group transferred	Entry of single carbon units into active pool
Homocysteine to methionine	5-Methyl(M)THF; -CH3 group transferred	Demethylation of 5-MTHF to THF; also requires cobalamin, flavine adenine dinucleotide, ATP, and adenosyl methionine
Forminoglutamic acid to glutamic acid in histidine catabolism	THF; -HN-CH= group transferred

36 - Diseases caused by mutations in collagen genes

Diseases Caused by Mutations in Collagen Genes or by Deficiencies in the Activities of Posttranslational Enzymes Involved in the Biosynthesis of Collagen.

Gene or Enzyme Disease COL1A1, COL1A2  Osteogenesis imperfecta, type 1 (MIM 166200) Osteoporosis (MIM 166710) Ehlers-Danlos syndrome type VII autosomal dominant (130060) COL2A1  Severe chondrodysplasias Osteoarthritis (MIM 165720) COL3A1  Ehlers-Danlos syndrome type IV (MIM 130050) COL4A3–COL4A6  Alport syndrome (including both autosomal and X-linked forms) (MIM 104200) COL7A1  Epidermolysis bullosa, dystrophic (MIM 131750) COL10A1  Schmid metaphysial chondrodysplasia (MIM 156500) Lysyl hydroxylase Ehlers-Danlos syndrome type VI (MIM 225400) Procollagen N-proteinase  Ehlers-Danlos syndrome type VII autosomal recessive (MIM 225410) Lysyl hydroxylase Menkes disease (MIM 309400)