sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; protein H105e3 (NSDHL, H105E3)

Function

• cholesterol biosynthesis, (lanosterol to zymosterol)

3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha- carboxylate + NADP+
              <-->
4-alpha-methyl-5-alpha-cholest-7-en-3-one + CO2 + NADPH

Structure

belongs to the 3-beta-HSD family

Compartment

membrane (potential)

Expression

• expressed in brain, heart, liver, lung, kidney, skin, placenta

Pathology

• defects in NSDHL are the cause of CHILD syndrome
• defects in NSDHL are the cause of CK syndrome

More general terms

• dehydrogenase
• membrane protein

Additional terms

• congenital hemidysplasia with ichthyosiform erythroderma & limb defects (CHILD syndrome)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=50814
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:50814
• OMIM: https://mirror.omim.org/entry/300275
• OMIM: https://mirror.omim.org/entry/300831
• OMIM: https://mirror.omim.org/entry/308050
• UniProt: http://www.uniprot.org/uniprot/Q15738.html