ARSL - arylsulfatase L Gene

中文名称：芳基硫酸酯酶 L

种属: Homo sapiens

同用名: ASE; ARSE; CDPX; CDPX1; CDPXR

基因 ID: 415 | 基因类型: protein coding

关于 ARSL

Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:2,934,521-2,968,245 (from NCBI)

This gene has 27 transcripts (splice variants), 309 orthologues, 16 paralogues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 13.0), liver (RPKM 12.3) and 9 other tissues.

功能概要

芳基硫酸酯酶 E 是硫酸酯酶家族的一员。它在翻译后被糖基化并定位于高尔基体。硫酸酯酶对于骨骼和软骨基质的正确组成至关重要。 X 连锁软骨发育不良是一种以软骨和骨骼发育异常为特征的疾病，与该基因的突变有关。可变剪接导致多个转录本变体。与该基因相关的一个假基因位于 Y 染色体上。[RefSeq 提供，2013 年 9 月]

Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]

ARSL 基因产物(5)

mRNA	Protein	Name
NM_000047.3	NP_000038.2	arylsulfatase L isoform 2 precursor
NM_001282628.2	NP_001269557.1	arylsulfatase L isoform 1
NM_001282631.2	NP_001269560.2	arylsulfatase L isoform 3
NM_001369079.1	NP_001356008.1	arylsulfatase L isoform 4 precursor
NM_001369080.1	NP_001356009.1	arylsulfatase L isoform 1

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 arylsulfatase activity	IDA IDA: 通过直接分析推断	9497243	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	9497243	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

ARSL 蛋白结构

Sulfatase

Sulfatase_C

0
100
200
300
400
500
589 a.a.

蛋白主名

其他名称

arylsulfatase L

arylsulfatase E (chondrodysplasia punctata 1)

关联疾病

疾病名称

别名

Chondrodysplasia Punctata 1, X-Linked Recessive

CDPX1	Chondrodysplasia Punctata, Brachytelephalangic
Cpxr	Chondrodysplasia Punctata, X-Linked Recessive
Chondrodysplasia Punctata Brachytelephalangic	Arylsulfatase E Deficiency
Chondrodysplasia Punctata 1 X-Linked Recessive	Chondrodysplasia Punctata, Type 1, X-Linked Recessive
Brachytelephalangic Chondrodysplasia Punctata	X-Linked Chondrodysplasia Punctata 1

Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Brachytelephalangic Chondrodysplasia Punctata

Bcdp

X-Linked Chondrodysplasia Punctata 1

Chondrodysplasia Punctata 1, X-Linked	Arylsulfatase E Deficiency
Chondrodystrophia Calcificans Congenita	Cdpx1
X-Linked Recessive Chondrodysplasia Punctata 1	Brachytelephalangic Chondrodysplasia Punctata

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

Acquired Hyperkeratosis

Acquired Keratoderma	Keratoderma - Acquired
Keratoderma, Acquired	Keratosis Blennorrhagica

Tracheal Calcification

Calcification Of Trachea

46,Xy Sex Reversal 1

SRXY1	46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Sex Reversal, Sry-Related	Swyer Syndrome
46xy Sex Reversal 1	46,Xy Gonadal Dysgenesis Complete Sry-Related
46,Xy Sex Reversal Sry-Related	46,Xy True Hermaphroditism Sry-Related
Gonadal Dysgenesis Xy Female Type	Xy Females
46,Xy True Hermaphroditism, Sry-Related	Gonadal Dysgenesis, 46,Xy
46, Xy Female

Raynaud-Claes Syndrome

Mrx49	MRXSRC
Mental Retardation, X-Linked 49	Mrx15
Clcn4-Related X-Linked Intellectual Disability Syndrome	Mental Retardation, X-Linked 15
X-Linked Mental Retardation 15	X-Linked Mental Retardation 49
Mental Retardation, X-Linked-49

Turner Syndrome

Monosomy X	Gonadal Dysgenesis Turner Type
Ullrich-Turner Syndrome	Bonnevie-Ullrich Syndrome
Karyotype 45, X	Genital Dwarfism, Turner Type
Gonadal Dysgenesis	45,X
Turner'S Syndrome	Gonadal Dysgenesis - Turner
Monosomy X Syndrome	Xo Syndrome
Genital Dwarfism	45, X Syndrome
Bonnevie-Ulrich Syndrome	Chromosome X Monosomy X
Schereshevkii Turner Syndrome	Turner Varny Syndrome
Ts	45,X Syndrome
45,X/46,Xx Syndrome	Turners Syndrome
Gonadal Dysgenesis, 45,X	X0 Syndrome

Midface Dysplasia

Occupational Dermatitis

Dermatitis, Occupational	Occupational Allergic Contact Dermatitis
Occupational Eczema

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Ichthyosis, X-Linked

X-Linked Ichthyosis	Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency	Steroid Sulfatase Deficiency Disease
XLI	Sts Deficiency
Ssdd	X-Linked Recessive Ichthyosis
X-Linked Ichthyosis With Steryl-Sulphatase Deficiency	X-Linked Placental Steryl-Sulphatase Deficiency
Ssd	X Linked Ichthyosis
Recessive X-Linked Ichthyosis	Rxli
Syndromic Recessive X-Linked Ichthyosis	Recessive X-Linked Ichthyosis With Extracutaneous Manifestations
Syndromic Rxli	X-Linked Ichthyosis Syndrome
IXL	Ichthyosis X-Linked
Sex-Linked Ichthyosis	X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant	Autosomal Dominant Cutis Laxa
ADCL1	Adcl
Autosomal Dominant Cutis Laxa 1	Cutis Laxa, Autosomal Dominant, 1
Cutis Laxa, Autosomal Dominant, Type 1

Leri-Weill Dyschondrosteosis

LWD	Dyschondrosteosis
Dco	Léri-Weill Dyschondrosteosis
Leri Weill Dyschondrosteosis	Leri-Weill Syndrome
Leri-Weil Syndrome	Dyschondrosteosis, Leri-Weill

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

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-RS01043	ARSL Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ARSL	RGD	RGD:1304917
Macaca mulatta	ARSL	VGNC	VGNC:81361
Bos taurus	ARSL	VGNC	VGNC:55097
Canis familiaris	ARSL	VGNC	VGNC:55096
Felis catus	ARSL	VGNC	VGNC:108359

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ARSL - arylsulfatase L Gene

关于 ARSL

功能概要

ARSL 基因产物(5)

ARSL 蛋白结构

关联疾病

直系同源

热门区域

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ARSL - arylsulfatase L Gene

关于 ARSL

功能概要

ARSL 基因产物(5)

ARSL 蛋白结构

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