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Literature summary for 1.3.1.70 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
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Cloned(Commentary)

Cloned (Comment) Organism
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

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

Localization

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

Molecular Weight [Da]

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
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+
-
 ?
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

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

Source Tissue

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

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5alpha-cholesta-8,14-dien-3beta-ol + NADPH
-
 Homo sapiens 5alpha-cholesta-8-en-3beta-ol + NADP+
-
 ?
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+
-
 ?
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

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

Synonyms

Synonyms Comment Organism
3beta-hydroxysterol DELTA14-reductase
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADPH
-
 Homo sapiens