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

Homo sapiens

Also known as H105E3; XAP104; SDR31E1

Gene ID: 50814 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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