polycystic kidney disease 2-like 1 protein; polycystin-2L1; polycystin-L1; polycystin-L; polycystin-2 homolog (PKD2L1 PKD2L PKDL)
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Function
- may function as a subunit of an ion channel & act as a transducer of Ca+2-mediated signaling
Structure
- belongs to the polycystin family
Compartment
- membrane
Alternative splicing
Expression
- expressed in adult heart, skeletal muscle, brain, spleen, testis, retina & liver
- expressed at high levels in fetal tissues, including kidney & liver[2]
- down-regulated in adult tissues[2]
- expressed in fetal brain, but not expressed in fetal lung, liver or kidney.[3]
- isoform 4 appears to be expressed only in transformed lymphoblasts
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9P0L9.html
- ↑ 2.0 2.1 2.2 Nomura H et al Identification of PKDL, a novel polycystic kidney disease 2- like gene whose murine homologue is deleted in mice with kidney and retinal defects. J Biol Chem. 1998 Oct 2;273(40):25967-73 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9748274
- ↑ 3.0 3.1 Veldhuisen B et al Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). Eur J Hum Genet. 1999 Dec;7(8):860-72 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10602361