NSDHL - NAD(P) dependent steroid dehydrogenase-like Gene

Also Known as H105E3; XAP104; SDR31E1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50814

About NSDHL

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:152,831,063-152,869,729 (from NCBI)

This gene has 3 transcripts (splice variants), 215 orthologues, 10 paralogues and is associated with 6 phenotypes. Ubiquitous expression in esophagus (RPKM 14.3), adrenal (RPKM 14.0) and 25 other tissues.

Summary

The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in Cholesterol biosynthesis. Mutations in this 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. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]

NSDHL Products (2)

mRNA	Protein	Name
NM_001129765.2	NP_001123237.1	sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
NM_015922.3	NP_057006.1	sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in lipid droplet	IDA IDA: Inferred from direct assay	14741744	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NSDHL Protein Structure

3Beta_HSD

0
100
200
300
373 a.a.

Protein Preferred Names	Protein Names
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating	NAD(P) dependent steroid dehydrogenase-like protein transcript

NSDHL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NSDHL	Q15738	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
Intra	NSDHL	Q15738	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	NSDHL	Q15738	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	NSDHL	Q15738	RHBDD1	Homo sapiens	Q8TEB9	Validated Y2H	32296183
Intra	NSDHL	Q15738	RHBDD1	Homo sapiens	Q8TEB9	Y2H Array	32296183
Intra	NSDHL	Q15738	RHBDD1	Homo sapiens	Q8TEB9	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

NSDHL Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83375	NSDHL Antibody (YA3120)	WB, IP	Human, Mouse, Rat
HY-P83375A	NSDHL Antibody (YA3120)(PBS only)	WB, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Child Syndrome Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs Child Nevus Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects Ichthyosis, Child Syndrome Child Syndrome Ichthyosis CHILD
Ck Syndrome	CKS X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation
Nsdhl-Related Disorders
Chondrodysplasia Punctata 2, X-Linked Dominant	CDPX2 Happle Syndrome Chondrodysplasia Punctata, X-Linked Dominant Cdpxd Cpxd Conradi-Hunermann Syndrome Conradi-Hunermann-Happle Syndrome Chondrodysplasia Punctata 2 X-Linked Dominant X-Linked Dominant Chondrodysplasia Punctata 2 Conrad Hunermann Happle Syndrome Conradi Hunermann Syndrome Chh Chondrodysplasia Punctata, Type 2, X-Linked Dominant Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata
Verruciform Xanthoma Of Skin	Verruciform Xanthoma Cutaneous Verruciform Xanthoma
Amelia
X-Linked Chondrodysplasia Punctata 2	Happle Syndrome Cdpx2 Conradi-Hünermann Syndrome Chondrodysplasia Punctata 2, X-Linked X-Linked Dominant Chondrodysplasia Punctata Conradi-Hunermann Syndrome Conradi-Hünermann-Happle Syndrome Cdpxd Cpxd Chondrodystrophia Calcificans Congenita Conradi-Hunermann-Happle Syndrome X-Linked Chondrodysplasia Punctata Type 2 Chondrodysplasia Punctata, X-Linked Dominant Type
Mend Syndrome	Male Ebp Disorder With Neurological Defects MEND Male Ebp Disorder With Neurologic Defects
Nevus, Epidermal	Epidermal Nevus Woolly Hair Nevus Epidermal Naevus Epidermal Nevus Syndrome Nevus, Keratinocytic, Nonepidermolytic Epidermal Nevus, Somatic Nevus, Epidermal, Somatic Nevus Sebaceous Or Woolly Hair Nevus, Somatic Nonepidermolytic Keratinocytic Nevus Epidermal Hamartoma Syndrome Wooly Hair Nevus Keratinocytic Non-Epidermolytic Nevus KNEN Pigmented Moles Organoid Nevus Phakomatosis Nevus Sebaceous Melanocytic Nevus Melanocytic Nevus Of Skin
Chromosome Xp21 Deletion Syndrome	Complex Glycerol Kinase Deficiency Xp21 Microdeletion Syndrome Monosomy Xp21 Xp21 Deletion Syndrome Complex Gkd Del Xp21 Contiguous Gene Deletion Syndrome Glycerol Kinase Deficiency - Contiguous Gene Syndrome
Chondrodysplasia Punctata Syndrome	Chondrodysplasia Punctata Chondrodysplasia Punctata Congenita Toriello Higgins Miller Syndrome Chondrodysplasia Punctata, Toriello Type Toriello-Higgins-Miller Syndrome Cdp Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata Group Dysplasia Punctata Epiphysis Dysplasia Punctata Dysplasia Epiphysealis Punctata Chondrodystrophy Of Punctata
Greenberg Dysplasia	Hem Dysplasia Greenberg Skeletal Dysplasia Hem Skeletal Dysplasia GRBGD Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia Moth-Eaten Skeletal Dysplasia Chondrodystrophy, Hydropic And Prenatally Lethal Type Hydrops-Ectopic Calcification-Motheaten Syndrome Skeletal Dysplasia, Greenberg Type Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia Hem Hem/Greenberg Dysplasia Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Porokeratosis	Disseminated Superficial Actinic Porokeratosis Dsap Porokeratosis Of Mibelli Porokeratosis, Disseminated Superficial Actinic Porokeratosis, Disseminated Superficial Actinic, 1
Scoliosis
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09590	NSDHL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NSDHL	RGD	RGD:1359337
Mus musculus	NSDHL	MGD	MGI:1099438
Bos taurus	NSDHL	VGNC	VGNC:56932
Others	NSDHL	NCBI