ARSL - arylsulfatase L Gene

Homo sapiens

Also known as ASE; ARSE; CDPX; CDPX1; CDPXR

Gene ID: 415 | Gene type: protein coding

About 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.

Summary

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 Products(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

ARSL Protein Structure

Sulfatase

Sulfatase_C

0
100
200
300
400
500
589 a.a.

Protein Preferred Names

Protein Names

arylsulfatase L

arylsulfatase E (chondrodysplasia punctata 1)

Related Diseases

Diseases

Alias

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01043	ARSL Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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