1. Gene
  2. C6 - complement C6 Gene

C6 - complement C6 Gene

中文名称:补体 C6

种属: Homo sapiens

基因 ID: 729 | 基因类型: protein coding

关于 C6

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:41,142,116-41,261,469 (from NCBI)

This gene has 9 transcripts (splice variants), 206 orthologues, 39 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 126.4), heart (RPKM 11.8) and 2 other tissues.

功能概要

该基因编码补体级联的一个组成部分。编码的蛋白质是膜攻击复合物的一部分,可以掺入细胞膜并引起细胞裂解。该基因的突变与补体成分 6 缺乏有关。已经描述了编码相同蛋白质的转录变体。[RefSeq 提供,2012 年 11 月]

This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause Cell Lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]

C6 基因产物(2)

mRNA Protein Name
NM_000065.5 NP_000056.2 complement component C6 precursor
NM_001115131.4 NP_001108603.2 complement component C6 precursor

C6 蛋白结构

TSP_1

TSP_1: Thrombospondin type 1 domain (28 - 78)

TSP_1

TSP_1: Thrombospondin type 1 domain (86 - 133)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (140 - 173)

MACPF

MACPF: MAC/Perforin domain (293 - 514)

TSP_1

TSP_1: Thrombospondin type 1 domain (571 - 612)

Sushi

Sushi: Sushi repeat (SCR repeat) (644 - 695)

Sushi

Sushi: Sushi repeat (SCR repeat) (713 - 754)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (793 - 837)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 934 a.a.
蛋白主名 其他名称

complement component C6

complement component 6

重组 C6 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74373 C6/Complement component C6 Protein, Human (HEK293, His) AAA59668 (M1-A934) ≥95%

关联疾病

疾病名称 别名
Complement Component 6 Deficiency

C6 Deficiency

C6D

C6 Deficiency Subtotal

Complement Component 6 Deficiency Subtotal

C6 Deficiency, Subtotal

Immunodeficiency Due To A Late Component Of Complement Deficiency

Immunodeficiency Due To C5 To C9 Component Complement Deficiency

Terminal Complement Pathway Deficiency

Meningococcal Meningitis

Meningitis, Meningococcal

Meningitis Meningococcal

Epidemic Meningitis

Meningitis Due To Neisseria Meningitidis

Meningococcal Meninges Infection

Meningococcal Meningeal Infection

Meningococcal Cerebrospinal Inflammation

Chronic Meningococcal Arachnoiditis

Meningococcal Arachnoiditis

Diplococcal Spinal Meningitis

Diplococcal Meningitis

Meningococcal Cerebrospinal Fever

Meningococcal Cerebrospinal Infection

Meningococcal Spinal Meningitis

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus C6 VGNC VGNC:52722
Felis catus C6 VGNC VGNC:60233
Rattus norvegicus C6 RGD RGD:2238
Canis familiaris C6 VGNC VGNC:38598
Macaca mulatta C6 VGNC VGNC:70477
Mus musculus C6 MGD MGI:88233
Macaca fascicularis C6 NCBI
Others C6 NCBI