NSDHL

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene.^[5][6] This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.^[7]

NSDHL
Identifiers
Aliases	NSDHL, H105E3, SDR31E1, XAP104, NAD(P) dependent steroid dehydrogenase-like
External IDs	OMIM: 300275; MGI: 1099438; HomoloGene: 5951; GeneCards: NSDHL; OMA:NSDHL - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 152,830,967 bp[1] End 152,869,729 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.3|X 37.29 cM Start 71,962,163 bp[2] End 72,002,120 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of esophagus endothelial cell gingival epithelium right adrenal cortex left adrenal gland left adrenal cortex mucosa of transverse colon ganglionic eminence gonad right lobe of liver Top expressed in left lobe of liver efferent ductule superior cervical ganglion medial vestibular nucleus transitional epithelium of urinary bladder brown adipose tissue dorsal tegmental nucleus anterior horn of spinal cord facial motor nucleus endothelial cell of lymphatic vessel More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 3-beta-hydroxy-delta5-steroid dehydrogenase activity oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity oxidoreductase activity C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity 4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) activity Cellular component integral component of membrane endoplasmic reticulum membrane lipid droplet membrane endoplasmic reticulum Biological process lipid metabolism labyrinthine layer blood vessel development smoothened signaling pathway steroid metabolic process hair follicle development cholesterol metabolic process cholesterol biosynthetic process steroid biosynthetic process sterol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 50814 18194 Ensembl ENSG00000147383 ENSMUSG00000031349 UniProt Q15738 Q9R1J0 RefSeq (mRNA) NM_001129765 NM_015922 NM_010941 RefSeq (protein) NP_001123237 NP_057006 NP_035071 Location (UCSC) Chr X: 152.83 – 152.87 Mb Chr X: 71.96 – 72 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

Mutations in the NSDHL 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.^[7][8]