KLK4 gene

kallikrein related peptidase 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Amelogenesis imperfecta, hypomaturation type, IIA1

From UniProt:

Amelogenesis imperfecta, hypomaturation type, 2A1 (AI2A1): A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. [MIM:204700]

Cytogenetic Location: 19q13.41, which is the long (q) arm of chromosome 19 at position 13.41

Molecular Location: base pairs 50,906,352 to 50,910,745 on chromosome 19 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 19q13.41, which is the long (q) arm of chromosome 19 at position 13.41
  • AI2A1
  • ARM1
  • EMSP
  • EMSP1
  • kallikrein
  • KLK-L1
  • PRSS17
  • PSTS