PKD1L2
Description
The PKD1L2 (polycystin 1 like 2 (gene/pseudogene)) is a protein-coding gene located on chromosome 16.
PKD1L2 may play a role in regulating ion channels and acting as a G-protein-coupled receptor.
PKD1L2 is also known as PC1L2.
Associated Diseases
- early-onset non-syndromic cataract
- isolated ectopia lentis
- female infertility due to oocyte meiotic arrest
- premature ovarian failure 19
- oocyte maturation defect 9
- cataract
- female infertility due to zona pellucida defect
- hereditary hyperferritinemia with congenital cataracts
- hypergonadotropic hypogonadism-cataract syndrome
- cataract 13 with adult I phenotype
- cataract 38
- granular corneal dystrophy type I
- congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
