NSDHL

Description		NAD(P) dependent steroid dehydrogenase-like
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GO Annotations	Cellular Component	Endoplasmic Reticulum Endoplasmic Reticulum Membrane Lipid Droplet Integral Component Of Membrane
	Molecular Function	C-3 Sterol Dehydrogenase (C-4 Sterol Decarboxylase) Activity 3-beta-hydroxy-delta5-steroid Dehydrogenase Activity Protein Binding Oxidoreductase Activity, Acting On The CH-OH Group Of Donors, NAD Or NADP As Acceptor Sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) 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
	Biological Process	Hair Follicle Development Cholesterol Biosynthetic Process Smoothened Signaling Pathway Cholesterol Metabolic Process Labyrinthine Layer Blood Vessel Development
Pathways		Cholesterol biosynthesis
Drugs		NADH
Diseases		Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS) Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
GWAS
Novel Interacting Genes		1 novel interacting genes: DCC
Interacting Genes		4 interacting genes: GPR35 RHBDD1 TMEM31 TMX2
Entrez ID		50814
HPRD ID		02229
Ensembl ID		ENSG00000147383
Uniprot IDs		A0A384NPZ7 Q15738
PDB IDs		6JKG 6JKH
Enriched GO Terms of Interacting Partners?
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