Gene: CTSH

Alternate names for this Gene: ACC-4|ACC-5|ACC4|ACC5|CPSB

Gene Summary: The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.1

Description of this Gene: cathepsin H

Type of Gene: protein-coding

rs2289702 in CTSH gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs2289702 in CTSH gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs2289702 in CTSH gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs12592898 in CTSH gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs34593439 in CTSH gene and Diabetes Mellitus, Insulin-Dependent PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

PMID 18978792 2008 Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

rs3825932 in CTSH gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs3825932 in CTSH gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs2289702 in CTSH gene and Narcolepsy PMID 23459209 2013 ImmunoChip study implicates antigen presentation to T cells in narcolepsy.