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 | 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 | 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 Maximum [Da] | Comment | Organism |
---|---|---|---|
46600 | - |
x * 46600, mutant TM7SF2 | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | O76062 | patient, mutant TM7SF2 | - |
Homo sapiens | Q14739 | patient, mutant LBR | - |
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 | 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 | Comment | Organism |
---|---|---|
? | x * 46600, mutant TM7SF2 | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
3beta-hydroxysterol DELTA14-reductase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
NADPH | - |
Homo sapiens |