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Literature summary for 2.7.7.18 extracted from

  • Lukacs, M.; Gilley, J.; Zhu, Y.; Orsomando, G.; Angeletti, C.; Liu, J.; Yang, X.; Park, J.; Hopkin, R.J.; Coleman, M.P.; Zhai, R.G.; Stottmann, R.W.
    Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence (2019), Exp. Neurol., 320, 112961 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.7.18

Application

Application Comment Organism
medicine loss of function mutations in two stillborn siblings lead to fetal akinesia deformation sequence, severely reduced skeletal muscle mass and hydrops fetalis. Both protein variants are incapable of supporting axon survival in mouse primary neuron cultures when overexpressed. Variants display altered protein stability and/or defects in NAD+ synthesis and chaperone functions Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information mutation R232Q in one allele plus a single duplication of a cytosine at position 403 in exon 5 resulting in a frameshift and premature stop after 44 amino acids lead to a loss of NMNAT2 function, identified in fetus with akinesia deformation sequence, severely reduced skeletal muscle mass and hydrops fetalis Homo sapiens
R232Q mutation impairs NAD synthase and chaperone functions Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9BZQ4 isoform NMNAT2, cf. EC 2.7.7.1
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Source Tissue

Source Tissue Comment Organism Textmining
fetus
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 Homo sapiens
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Synonyms

Synonyms Comment Organism
NMNAT2 cf. EC 2.7.7.1 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
42
-
-
 Homo sapiens