NP_057006
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
35.5kDa (320aa), confirmed by MALDI-TOF
NCBI Official Full Name
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
NCBI Official Synonym Full Names
NAD(P) dependent steroid dehydrogenase-like
NCBI Protein Information
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
UniProt Protein Name
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
UniProt Synonym Protein Names
Protein H105e3
UniProt Synonym Gene Names
NCBI Summary for NSDHL
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for NSDHL
Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.
Product References and Citations for NSDHL recombinant protein
Morimoto M. et al. (2012) J Mol Histol. 43:95-106; McLarren KW. et al. (2010) Am J Hum Genet 87:905-914.;
Research Articles on NSDHL
Precautions
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Disclaimer
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Products associated with NSDHL recombinant protein
Pathways associated with NSDHL recombinant protein
Diseases associated with NSDHL recombinant protein
Organs/Tissues associated with NSDHL recombinant protein
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