2. Gene
  3. ARSD - arylsulfatase D Gene

ARSD - arylsulfatase D Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品

中文名称：芳基硫酸酯酶 D

种属: Homo sapiens

同用名: ASD

基因 ID: 414 | 基因类型: protein coding

关于 ARSD

Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:2,903,972-2,929,339 (from NCBI)

This gene has 7 transcripts (splice variants), 228 orthologues and 16 paralogues. Ubiquitous expression in kidney (RPKM 21.5), thyroid (RPKM 12.5) and 25 other tissues.

功能概要

该基因编码的蛋白质是硫酸酯酶家族的一员。硫酸酯酶对于骨骼和软骨基质的正确组成至关重要。编码的蛋白质在翻译后被糖基化并定位于溶酶体。该基因位于 X 染色体上一组相似的芳基硫酸酯酶基因中。已在 Y 染色体的假常染色体区域鉴定出一个相关的假基因。[RefSeq 提供，2011 年 7 月]

The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011]

ARSD 基因产物(2)

mRNA Protein Name
NM_001669.4 NP_001660.2 arylsulfatase D isoform alpha precursor
NM_009589.5 NP_033667.2 arylsulfatase D isoform beta precursor

ARSD 蛋白结构

Sulfatase

Sulfatase: Sulfatase (41 - 426)

Sulfatase_C

Sulfatase_C: C-terminal region of aryl-sulfatase (451 - 585)

  • 0
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  • 200
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  • 500
  • 593 a.a.
蛋白主名 其他名称

arylsulfatase D

testis tissue sperm-binding protein Li 39a

关联疾病

疾病名称 别名
Chondrodysplasia Punctata, Tibia-Metacarpal Type

Chondrodysplasia Punctata, Mt Type

Chondrodysplasia Punctata, Tibial-Metacarpal Type
Pontiac Fever
Gastric Dilatation

Stomach Dilatation
Legionellosis

Legionella Infection

Pontiac Fever

Legionnaires' Disease

Infection By Legionella Pneumophilia

Legionella Pneumophila Infection
Legionnaire Disease

Legionnaires' Disease

Legionnaires Disease

Legionnaire Disease, Susceptibility To

Legionella

Legionella Pneumonia

Infection By Legionella Pneumophilia

Legionnaire'S Disease

Legionellosis

Legionaire Disease, Susceptibility To

Legionnaires Pneumonia
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01036 ARSD Human Pre-designed siRNA Set A Pre-designed Set / 否
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