NP_035071.3
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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
40,686 Da
NCBI Official Full Name
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
NCBI Official Synonym Full Names
NAD(P) dependent steroid dehydrogenase-like
NCBI Official Synonym Symbols
Bpa; Str; H105E3; XAP104; AI747449 [Similar Products]
NCBI Protein Information
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
UniProt Protein Name
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
UniProt Entry Name
NSDHL_MOUSE
UniProt Comments for Nsdhl
NSDHL: Defects in NSDHL are the cause of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD). CHILD is an X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. Defects in NSDHL are the cause of CK syndrome (CKS). CKS is a disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. Belongs to the 3-beta-HSD family.
Protein type: Lipid Metabolism - steroid biosynthesis; Oxidoreductase; Endoplasmic reticulum; Membrane protein, integral; EC 1.1.1.170
Cellular Component: endoplasmic reticulum; integral to membrane; intracellular membrane-bound organelle; lipid particle; membrane
Molecular Function: 3-beta-hydroxy-delta5-steroid dehydrogenase activity; oxidoreductase activity; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor; sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity
Biological Process: cholesterol biosynthetic process; cholesterol metabolic process; hair follicle development; lipid metabolic process; smoothened signaling pathway; steroid biosynthetic process; steroid metabolic process; sterol biosynthetic process
Research Articles on Nsdhl
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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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