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Literature summary extracted from

  • Waterham, H.R.; Koster, J.; Mooyer, P.; Noort Gv, G.; Kelley, R.I.; Wilcox, W.R.; Wanders, R.J.; Hennekam, R.C.; Oosterwijk, J.C.
    Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3beta-hydroxysterol DELTA14-reductase deficiency due to mutations in the lamin B receptor gene (2003), Am. J. Hum. Genet., 72, 1013-1017.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.1.70 DNA and amino acid sequence determination and analysis of 2 mutants, i.e. TM7SF2 and LBR, with autosomal recessive HEM/Greenberg skeletal dysplasia expressing a defective, truncated enzyme Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.1.70 additional information enzyme deficiency due to mutations in the lamin B receptor gene causes autosomal recessive HEM/Greenberg skeletal dysplasia Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.3.1.70 endoplasmic reticulum patient, mutant TM7SF2 Homo sapiens 5783
-
1.3.1.70 membrane patient, mutant TM7SF2 Homo sapiens 16020
-

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
1.3.1.70 46600
-
 x * 46600, mutant TM7SF2 Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.3.1.70 5alpha-cholesta-8,14-dien-3beta-ol + NADPH Homo sapiens the substrate accumulates in patients suffering autosomal recessive HEM/Greenberg skeletal dysplasia 5alpha-cholesta-8-en-3beta-ol + NADP+
-
 ?
1.3.1.70 additional information Homo sapiens enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.3.1.70 Homo sapiens O76062 patient, mutant TM7SF2
-
1.3.1.70 Homo sapiens Q14739 patient, mutant LBR
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.1.70 fibroblast of an 18-weeks-old fetus with autosomal recessive HEM/Greenberg skeletal dysplasia showing enzyme-deficiency Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.1.70 5alpha-cholesta-8,14-dien-3beta-ol + NADPH
-
 Homo sapiens 5alpha-cholesta-8-en-3beta-ol + NADP+
-
 ?
1.3.1.70 5alpha-cholesta-8,14-dien-3beta-ol + NADPH the substrate accumulates in patients suffering autosomal recessive HEM/Greenberg skeletal dysplasia Homo sapiens 5alpha-cholesta-8-en-3beta-ol + NADP+
-
 ?
1.3.1.70 additional information enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification Homo sapiens ?
-
 ?

Subunits

EC Number Subunits Comment Organism
1.3.1.70 ? x * 46600, mutant TM7SF2 Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
1.3.1.70 3beta-hydroxysterol DELTA14-reductase
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.3.1.70 NADPH
-
 Homo sapiens