GZMH - granzyme H Gene

Homo sapiens

Also known as CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2

Gene ID: 2999 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

Trypsin

0
100
200
246 a.a.

Protein Preferred Names

Protein Names

granzyme H

cathepsin G-like 2, protein h-CCPX

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05941	GZMH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GZMH	VGNC	VGNC:73338
Rattus norvegicus	GZMH	RGD	RGD:628603

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