Bioinformatics Database
KLK4: Kallikrein related peptidase 4
Cellular Process
Enamel formation
Gene Name
KLK4: Kallikrein related peptidase 4
Gene ID
9622
Gene Sequence
General Description
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.
Alternative titles; symbols
KALLIKREIN 4 PROTEASE, SERINE, 17; PRSS17 PROSTASE; PSTS ENAMEL MATRIX SERINE PROTEINASE 1; EMSP1
Chromosome
Chromosome 19
Cytogenetic location
19q13.41
Encoded Protein
Kallikrein-4 isoform 2
Function of the protein in oral and tooth development
Kallikrein-4 (KLK4) is a secreted protein specialized for enamel biomineralization. Nunez et al., (2015) studied enamel structures from Klk4 (-/-) mice and reported that the mandibular incisors in Klk4(-/-) mice were chalky-white and chipped. No abnormalities except in enamel were observed, and no significant differences were detected in enamel thickness or volume, or in rod decussation. The authors concluded that KLK4 functions independently, but is necessary for proper enamel maturation (Nunez et al., 2015).
Dental and Oral Diseases
Amelogenesis imperfecta, type IIA1
(OMIM ID: 603767)
Protein Sequence
>NP_001289890.1 kallikrein-4 isoform 2 [Homo sapiens]
MVEASLSVRHPEYNRPLLANDLMLIKLDESVSESDTIRSISIASQCPTAGNSCLVSGWGLLANGRMPTVL
QCVNVSVVSEEVCSKLYDPLYHPSMFCAGGGQDQKDSCNGDSGGPLICNGYLQGLVSFGKAPCGQVGVPG
VYTNLCKFTEWIEKTVQAS
Mutations
TRP153TER:Wright et al. (2011) identified a homozygous c.458G-A transition in the KLK4 gene, resulting in a trp153-to-ter (W153X) nonsense mutation at a highly conserved residue. The truncated protein would lack the final 101 amino acids, including serine-107 of the catalytic triad.
1-BP DEL, 245G: Wang et al. (2013) identified a homozygous 1-bp deletion in exon 3 (c.245delG) of the KLK4 gene. The mutation was predicted to result in a frameshift at codon 82 and termination of the protein at codon 87.
Related Literature
Núñez et al., (2016): https://doi.org/10.1016/j.matbio.2015.11.007
Wang et al., (2013): https://doi.org/10.1177/0022034513475626
