Annotation Details for NSDHL

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Basic Information Top

Gene Symbol:	NSDHL ( H105E3,SDR31E1,XAP104 )
Gene Full Name:	NAD(P) dependent steroid dehydrogenase-like
Band:	Xq28
Quick Links	Entrez ID:50814; OMIM: 300275; Uniprot ID:NSDHL_HUMAN; ENSEMBL ID: ENSG00000147383; HGNC ID: 13398
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:4 results
Molecular Function:3 results
Biological Process:5 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005783	IDA	-	endoplasmic reticulum	-
GO:0005789	TAS	-	endoplasmic reticulum membrane	-
GO:0005811	IDA	-	lipid particle	14741744
GO:0016021	IEA	-	integral component of membrane	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0000252	TAS	-	C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity	-
GO:0003854	IEA	-	3-beta-hydroxy-delta5-steroid dehydrogenase activity	-
GO:0047012	IEA	-	sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0001942	IEA	-	hair follicle development	-
GO:0006695	TAS	-	cholesterol biosynthetic process	-
GO:0007224	IEA	-	smoothened signaling pathway	-
GO:0055114	IEA	-	oxidation-reduction process	-
GO:0060716	IEA	-	labyrinthine layer blood vessel development	-

Protein-Protein Interaction

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1099438
Data Attributes: MGI curated and HomoloGene calculated

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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