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. Alternate splice variants for this gene have been described, but their biological validity has not been determined. [provided by RefSeq].
Subcellular Location:
Secreted.
Tissue Specificity:
Expressed in prostate.
DISEASE:
Defects in KLK4 are the cause of amelogenesis imperfecta hypomaturation type 2A1 (AI2A1) [MIM:204700]. AI2A1 is an autosomal recessive 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.
Similarity:
Belongs to the peptidase S1 family. Kallikrein subfamily.
Contains 1 peptidase S1 domain.
SWISS:
Q9Y5K2
Gene ID:
9622
Database links:
Entrez Gene: 9622 Human
Entrez Gene: 56128 Mouse
Omim: 603767 Human
SwissProt: Q9Y5K2 Human
SwissProt: P00757 Mouse
Unigene: 218366 Human
Unigene: 42080 Mouse
KLK4目前认为是前列腺癌等其他肿瘤很有意义的标志物。激肽释放酶KLK是激肽系统的主要限速酶，它是一组存在于多数组织和体液中的丝氨酸蛋白酶，是一种肽链内切酶。KLK又称血管舒缓素，包括15个家族成员。在不同的组织中广泛表达,具有蛋白水解酶的活性。它特异性的在碳末端切割底物肽，可裂解激肽原释放具有活性的激肽，由激肽发挥对心血管系统及肾脏功能的调节作用。
组织KLK是一个大的基因家族，主要分布在肺、肾、血管、脑、肾上腺组织，为一种中等大小的糖蛋白。
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