NSDHL

Description		NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
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GO Annotations	Cellular Component	Endoplasmic Reticulum Endoplasmic Reticulum Membrane Lipid Droplet Membrane
	Molecular Function	3-beta-hydroxysteroid Dehydrogenase [NAD(P)+]/C4-decarboxylase Activity 3-beta-hydroxy-Delta5-steroid Dehydrogenase (NAD+) Activity Protein Binding Oxidoreductase Activity Oxidoreductase Activity, Acting On The CH-OH Group Of Donors, NAD Or NADP As Acceptor 3-beta-hydroxysteroid Dehydrogenase (NAD+)/C4-decarboxylase Activity
	Biological Process	Hair Follicle Development Lipid Metabolic Process Steroid Biosynthetic Process Cholesterol Biosynthetic Process Smoothened Signaling Pathway Steroid Metabolic Process Cholesterol Metabolic Process Sterol Biosynthetic Process Labyrinthine Layer Blood Vessel Development
Pathways		Cholesterol biosynthesis Cholesterol biosynthesis via lathosterol
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		Glycated hemoglobin levels ( 34059833)
Novel Interacting Genes		1 novel interacting genes: DCC
Interacting Genes		5 interacting genes: ERG28 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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