Carlito syrichta TKL/LRRK
※ LRRK family introduction LRRK (leucine-rich repeat kinase) belong to TKL family. Two members have been identified in human genome, LRRK1 and LRRK2. LRRK genes are most characterized by their association with Parkinson's Disease (PD). Most frequent mutation is G2019S in LRRK2 in North America and Europe which accounts for up to 10% in family cases and up to 2% in sporadic cases. LRRK2 mutations in PD are as high as 40% in North Africans and Ashkenazi Jews. LRRKs are expressed in development and adulthood, with identical levels of LRRKs mRNA in the lung, skeletal muscle, lymph node and heart. While more LRRK2 can be identified in kidney and brain tissue. LRRKs can mediate the phosphorylation of a variety of substrates and may play a critical role in cell function (1). Reference
1. Biskup, S., Moore, D.J., Rea, A., Lorenz-Deperieux, B., Coombes, C.E., Dawson, V.L., Dawson, T.M. and West, A.B. (2007) Dynamic and redundant regulation of LRRK2 and LRRK1 expression. BMC Neurosci, 8, 102. PMID: 18045479
There are 2 genes. Reviewed (0)
or Unreviewed (2) 
※ LRRK family introduction LRRK (leucine-rich repeat kinase) belong to TKL family. Two members have been identified in human genome, LRRK1 and LRRK2. LRRK genes are most characterized by their association with Parkinson's Disease (PD). Most frequent mutation is G2019S in LRRK2 in North America and Europe which accounts for up to 10% in family cases and up to 2% in sporadic cases. LRRK2 mutations in PD are as high as 40% in North Africans and Ashkenazi Jews. LRRKs are expressed in development and adulthood, with identical levels of LRRKs mRNA in the lung, skeletal muscle, lymph node and heart. While more LRRK2 can be identified in kidney and brain tissue. LRRKs can mediate the phosphorylation of a variety of substrates and may play a critical role in cell function (1). Reference
1. Biskup, S., Moore, D.J., Rea, A., Lorenz-Deperieux, B., Coombes, C.E., Dawson, V.L., Dawson, T.M. and West, A.B. (2007) Dynamic and redundant regulation of LRRK2 and LRRK1 expression. BMC Neurosci, 8, 102. PMID: 18045479
There are 2 genes. Reviewed (0)
or Unreviewed (2) | No. | Status | iEKPD ID | Ensemble Gene ID | UniProt Accession | Gene Name |
|---|---|---|---|---|---|
| 1 | | ||||
| 2 | |