KLK11 Chromosome 19
Kallikrein related peptidase 11
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What This Gene Does
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing and the use of alternate promoters results in multiple transcript variants encoding distinct isoforms which are differentially expressed. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Kallikreins|Serine proteases"
Locus Type
gene with protein product
Location
19q13.41
Ensembl
ENSG00000167757
Associated Conditions (1)
Ichthyosis with erythrokeratoderma
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1171661721 | Health Risk | Pathogenic | Ichthyosis with erythrokeratoderma, Ichthyosis with erythrokeratoderma |
| RS776782387 | Health Risk | Pathogenic | Ichthyosis with erythrokeratoderma, Ichthyosis with erythrokeratoderma |