KEGG   NETWORK: N01810
Entry
N01810                      Network                                
Name
Regulation of MMACHC expression
Definition
(THAP11+HCFC1+ZNF143) => MMACHC
  Expanded
(57215+3054+7702) => 25974
Class
nt06538 Cobalamin transport and metabolism
Type
Reference
Pathway
hsa04980 Cobalamin transport and metabolism   
Disease
H02222 Methylmalonic acidemia and hyperhomocysteinemia, cblX type   
Gene
57215  THAP11; THAP domain containing 11
3054  HCFC1; host cell factor C1
7702  ZNF143; zinc finger protein 143
25974  MMACHC; metabolism of cobalamin associated C
Reference
PMID:20301503
  Authors
Sloan JL, Carrillo N, Adams D, Venditti CP
  Title
Disorders of Intracellular Cobalamin Metabolism.
  Journal
GeneReviews (1993)
Reference
PMID:35013307
  Authors
Chern T, Achilleos A, Tong X, Hill MC, Saltzman AB, Reineke LC, Chaudhury A, Dasgupta SK, Redhead Y, Watkins D, Neilson JR, Thiagarajan P, Green JBA, Malovannaya A, Martin JF, Rosenblatt DS, Poche RA
  Title
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
  Journal
Nat Commun 13:134 (2022)
DOI:10.1038/s41467-021-27759-7
Reference
PMID:23539139
  Authors
Michaud J, Praz V, James Faresse N, Jnbaptiste CK, Tyagi S, Schutz F, Herr W
  Title
HCFC1 is a common component of active human CpG-island promoters and coincides with ZNF143, THAP11, YY1, and GABP transcription factor occupancy.
  Journal
Genome Res 23:907-16 (2013)
DOI:10.1101/gr.150078.112
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