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

中文名称：NAD (P) 依赖性类固醇脱氢酶样

种属: Homo sapiens

同用名: H105E3; XAP104; SDR31E1

基因 ID: 50814 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质定位于内质网，参与胆固醇的生物合成。该基因的突变与 CHILD 综合征有关，CHILD 综合征是一种 X 连锁的显性脂质代谢紊乱，胆固醇生物合成受到干扰，通常对男性是致命的。已发现该基因具有不同 5' UTR 的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in lipid droplet	IDA IDA: 通过直接分析推断	14741744	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NSDHL 蛋白结构

3Beta_HSD

0
100
200
300
373 a.a.

蛋白主名

其他名称

sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

NAD(P) dependent steroid dehydrogenase-like protein transcript

NSDHL 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	NSDHL	Q15738	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
种属内	NSDHL	Q15738	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
种属内	NSDHL	Q15738	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
种属内	NSDHL	Q15738	RHBDD1	Homo sapiens	Q8TEB9	Validated Y2H	32296183
种属内	NSDHL	Q15738	RHBDD1	Homo sapiens	Q8TEB9	Y2H Array	32296183
种属内	NSDHL	Q15738	RHBDD1	Homo sapiens	Q8TEB9	Y2H Prey Pooling	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

NSDHL 抗体

目录号	产品名	应用	反应物种
HY-P83375	NSDHL Antibody (YA3120)	WB, IP	Human

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09590	NSDHL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	NSDHL	RGD	RGD:1359337
Mus musculus	NSDHL	MGD	MGI:1099438
Bos taurus	NSDHL	VGNC	VGNC:56932

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

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

关于 NSDHL

功能概要

NSDHL 基因产物(2)

NSDHL 蛋白结构

NSDHL 蛋白互作信息

NSDHL 抗体

关联疾病

直系同源

热门区域

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

关于 NSDHL

功能概要

NSDHL 基因产物(2)

NSDHL 蛋白结构

NSDHL 蛋白互作信息

NSDHL 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z