Hs05600594_cn

• Gene Symbol: NSDHL
• Assay Reference Genome Location: Chr.X:152852686 on build GRCh38
• Cytoband: Xq28

Target Gene Details

• Entrez Gene ID: 50814
• Gene Name: NAD(P) dependent steroid dehydrogenase-like
• Gene Aliases: H105E3, SDR31E1, XAP104
• Location: Chr.X:152830967-152869363 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NSDHL	NM_001129765.1			NP_001123237.1
	NM_015922.2			NP_057006.1
	XM_011531178.2			XP_011529480.1
	XM_017029564.1			XP_016885053.1
	AK026549.1
	BC000245.1			AAH00245.1
	BC007816.2			AAH07816.1
	U47105.2			AAC50558.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv7158	Chr.X:152841419 - 152868689 on Build GRCh38	Insertion	NSDHL
nsv470373	Chr.X:152796870 - 152935948 on Build GRCh38	Gain	NSDHL CETN2 ZNF185

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydratase

Gene Ontology Categories:

Process(es)

hair follicle development
cholesterol biosynthetic process
smoothened signaling pathway
oxidation-reduction process
labyrinthine layer blood vessel development

Function(s)

C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity
3-beta-hydroxy-delta5-steroid dehydrogenase activity
sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity