KLK4 Chromosome 19
Kallikrein related peptidase 4
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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. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
"Kallikreins|Serine proteases"
Locus Type
gene with protein product
Location
19q13.41
Ensembl
ENSG00000167749
Associated Conditions (2)
Amelogenesis imperfecta type 2A1
Amelogenesis imperfecta
Key Variants
RS104894704
Likely pathogenic
Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1
Health Risk
RS201555681
Likely pathogenic
Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1
Health Risk
RS768235705
Likely pathogenic
Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1
Health Risk
RS1185328501
Pathogenic
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS1266288524
Pathogenic
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS556734208
Pathogenic
Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1
Health Risk
RS786204825
Pathogenic
Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894704 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1 |
| RS201555681 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1 |
| RS768235705 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1 |
| RS1185328501 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS1266288524 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS556734208 | Health Risk | Pathogenic | Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1 |
| RS786204825 | Health Risk | Pathogenic | Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1 |