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; striated; bare patches; NAD(P)-dependent steroid dehydrogenase-like protein
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: EC 1.1.1.170; Oxidoreductase; Endoplasmic reticulum; Membrane protein, integral; Lipid Metabolism - steroid biosynthesis
Cellular Component: membrane; intracellular membrane-bound organelle; endoplasmic reticulum; integral to membrane; lipid particle
Molecular Function: 3-beta-hydroxy-delta5-steroid dehydrogenase activity; oxidoreductase activity; sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
Biological Process: steroid metabolic process; cholesterol metabolic process; smoothened signaling pathway; hair follicle development; sterol biosynthetic process; lipid metabolic process; cholesterol biosynthetic process; steroid biosynthetic process
Research Articles on NSDHL
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Pathways associated with NSDHL elisa kit
Diseases associated with NSDHL elisa kit
Organs/Tissues associated with NSDHL elisa kit
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