2. Gene
  3. GZMH - granzyme H Gene

GZMH - granzyme H Gene

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

中文名称：颗粒酶 H

种属: Homo sapiens

同用名: CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2

基因 ID: 2999 | 基因类型: protein coding

关于 GZMH

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:24,606,480-24,609,685 (from NCBI)

This gene has 3 transcripts (splice variants), 261 orthologues and 6 paralogues. Broad expression in spleen (RPKM 9.5), bone marrow (RPKM 8.3) and 21 other tissues.

功能概要

该基因编码丝氨酸蛋白酶肽酶 S1 家族的成员。可变剪接导致多个转录本变体，其中至少一个编码前原蛋白，该前原蛋白经过蛋白水解处理以产生胰凝乳蛋白酶样蛋白酶。据报道，该蛋白质在免疫系统的 NK (自然杀伤) 细胞中组成型表达，并可能通过诱导靶细胞死亡和直接切割病原体感染细胞中的底物，在先天免疫反应的细胞毒性臂中发挥作用。该基因与 14 号染色体上颗粒酶亚家族的另一个成员存在于一个基因簇中。[RefSeq 提供，2015 年 11 月]

This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a chymotrypsin-like protease. This protein is reported to be constitutively expressed in the NK (natural killer) cells of the immune system and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. This gene is present in a gene cluster with another member of the granzyme subfamily on chromosome 14. [provided by RefSeq, Nov 2015]

GZMH 基因产物(3)

mRNA Protein Name
NM_001270780.2 NP_001257709.1 granzyme H isoform 2 precursor
NM_001270781.2 NP_001257710.1 granzyme H isoform 3 precursor
NM_033423.5 NP_219491.1 granzyme H isoform 1 preproprotein

GZMH 蛋白结构

Trypsin

Trypsin: Trypsin (21 - 239)

  • 0
  • 100
  • 200
  • 246 a.a.
蛋白主名 其他名称

granzyme H

cathepsin G-like 2, protein h-CCPX

重组 GZMH 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74115 Granzyme H/GZMH Protein, Human (HEK293, His) NP_219491.1 (E19-L246) ≥95%

关联疾病

疾病名称 别名
Lipodystrophy, Congenital Generalized, Type 2

Congenital Generalized Lipodystrophy Type 2

CGL2

Berardinelli-Seip Congenital Lipodystrophy Type 2

Berardinelli-Seip Syndrome

Brunzell Syndrome Bscl2-Related

Total Lipodystrophy And Acromegaloid Gigantism

Berardinelli-Seip Congenital Lipodystrophy, Type 2

Seip Syndrome

Berardinelli Syndrome

Lipodystrophy, Total, And Acromegaloid Gigantism

Lipoatrophic Diabetes, Congenital

Lipodystrophy, Berardinelli-Seip Congenital, Type 2

Brunzell Syndrome, Bscl2-Related

Congenital Lipoatrophic Diabetes

Congenital Generalized Lipodystrophy 2

Lipoatrophic Diabetes

Lipodystrophy Berardinelli Type

Familial Generalized Lipodystrophy

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2
Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2
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-RS05941 GZMH Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta GZMH VGNC VGNC:73338
Rattus norvegicus GZMH RGD RGD:628603
Others GZMH NCBI
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