NSDHL

NSDHL
Identifiers
Aliases	NSDHL, H105E3, SDR31E1, XAP104, NAD(P) dependent steroid dehydrogenase-like
External IDs	MGI: 1099438 HomoloGene: 5951 GeneCards: NSDHL
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 Cellular component • integral component of membrane • endoplasmic reticulum membrane • lipid particle • membrane • endoplasmic reticulum Biological process • lipid metabolic process • labyrinthine layer blood vessel development • smoothened signaling pathway • steroid metabolic process • hair follicle development • oxidation-reduction process • cholesterol metabolic process • cholesterol biosynthetic process • steroid biosynthetic process • sterol biosynthetic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
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_035071.3 NP_035071
Location (UCSC)	Chr X: 152.83 – 152.87 Mb	Chr X: 72.92 – 72.96 Mb
PubMed search

50814

18194

ENSG00000147383

ENSMUSG00000031349

Q15738

Q9R1J0

NM_001129765
NM_015922

NM_010941

NP_001123237
NP_057006

NP_035071.3
NP_035071

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

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.

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Wikipedia