DPP9 Chromosome 19
Dipeptidyl peptidase 9
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What This Gene Does
This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DASH family
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000142002
Associated Conditions (1)
Hatipoglu immunodeficiency syndrome
Key Variants
RS1193951296
Conflicting classifications of pathogenicity
Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome
Health Risk
RS2092446218
Conflicting classifications of pathogenicity
Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome
Health Risk
RS373451371
Conflicting classifications of pathogenicity
Health Risk
RS2512344317
Pathogenic
Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome
Health Risk
RS779854175
Pathogenic
Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1193951296 | Health Risk | Conflicting classifications of pathogenicity | Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome |
| RS2092446218 | Health Risk | Conflicting classifications of pathogenicity | Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome |
| RS373451371 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2512344317 | Health Risk | Pathogenic | Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome |
| RS779854175 | Health Risk | Pathogenic | Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome |