2. Gene
  3. ADAMTS6 - ADAM metallopeptidase with thrombospondin type 1 motif 6 Gene

ADAMTS6 - ADAM metallopeptidase with thrombospondin type 1 motif 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：具有 1 型血小板反应蛋白基序 6 的 ADAM 金属肽酶

种属: Homo sapiens

同用名: ADAM-TS6; ADAMTS-6; ADAM-TS 6

基因 ID: 11174 | 基因类型: protein coding

关于 ADAMTS6

Cytogenetic location: 5q12.3 Genomic coordinates (GRCh38): 5:65,148,738-65,481,920 (from NCBI)

This gene has 8 transcripts (splice variants), 218 orthologues and 25 paralogues. Broad expression in placenta (RPKM 1.3), gall bladder (RPKM 1.1) and 19 other tissues.

功能概要

该基因编码 ADAMTS (一种具有血小板反应蛋白基序的去整合素和金属蛋白酶) 蛋白家族的成员。该家族的成员共享几个不同的蛋白质模块，包括前肽区域、金属蛋白酶结构域、解整合素样结构域和 1 型血小板反应蛋白 (TS) 基序。这个家族的个别成员在 C 端 TS 基序的数量上有所不同，有些成员具有独特的 C 端结构域。编码的前原蛋白经过蛋白水解处理以产生成熟酶。该基因的表达可能受细胞因子 TNF-α 的调节。[RefSeq 提供，2016 年 3 月]

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature Enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]

ADAMTS6 基因产物(1)

mRNA Protein Name
NM_197941.4 NP_922932.2 A disintegrin and metalloproteinase with thrombospondin motifs 6 preproprotein

ADAMTS6 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (42 - 191)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (250 - 468)

TSP_1

TSP_1: Thrombospondin type 1 domain (562 - 612)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (718 - 829)

TSP_1

TSP_1: Thrombospondin type 1 domain (847 - 899)

TSP_1

TSP_1: Thrombospondin type 1 domain (907 - 959)

TSP_1

TSP_1: Thrombospondin type 1 domain (967 - 1005)

TSP_1

TSP_1: Thrombospondin type 1 domain (1024 - 1071)

PLAC

PLAC: PLAC (protease and lacunin) domain (1082 - 1115)

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  • 1117 a.a.
蛋白主名 其他名称

A disintegrin and metalloproteinase with thrombospondin motifs 6

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6

关联疾病

疾病名称 别名
Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos
Weill-Marchesani Syndrome

Gemss Syndrome

Spherophakia-Brachymorphia Syndrome

Marchesani-Weill Syndrome

Wms

Congenital Mesodermal Dystrophy

Mesodermal Dysmorphodystrophy, Congenital

Spherophakia Brachymorphia Syndrome

Mesodermal Dysmorphodystrophy Congenital

Wm Syndrome

Brachydactyly-Spherophakia Syndrome

Brachymorphy With Spherophakia Syndrome

Congenital Mesodermal Dysmorphodystrophy

Marchesani Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive

Weill-Marchesani Syndrome, Autosomal Dominant
Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]
Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea
Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd
Winchester Syndrome

WNCHRS

Winchester Disease

Winchester-Grossman Syndrome
Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]
Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta
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-RS00306 ADAMTS6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ADAMTS6 MGD MGI:1347348
Rattus norvegicus ADAMTS6 RGD RGD:1307678
Bos taurus ADAMTS6 VGNC VGNC:25628
Felis catus ADAMTS6 VGNC VGNC:102154
Macaca mulatta ADAMTS6 VGNC VGNC:69500
Canis familiaris ADAMTS6 VGNC VGNC:37602
Others ADAMTS6 NCBI
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