BBS9 is an 887 amino acid protein that localizes to both the cytoplasm and the centrosome and exists as six alternatively spliced isoforms. Expressed in a wide variety of tissues, including liver, lung, heart, brain and skeletal muscle, BBS9 functions as a component of the multi-protein BBSome complex which is required for ciliogenesis and is regulated by GDP/GTP exchange factors. Defects in the gene encoding BBS9 are associated with the pathogenesis of Bardet-Biedl syndrome type 9 (BBS9),

Glial cell line-derived neurotrophic factor (GDNF) and the related neurotrophic factor neurturin (NTN) are potent survival factors for central and peripheral neurons. GDNF is a glycosylated, disulfide-bonded homodimer that is distantly related to the TGF Beta superfamily of growth factors. Three receptors for these factors, GFR Alpha-1 (also designated GDNFR-Alpha, RETL1 or TrnR-1), GFR Alpha-2 (also designated GDNFR-Beta, RETL2, NTNR-Alpha or TrnR-2) and GFR Alpha-3 have been identified. Th

This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided

This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided

LIMK1 is a protein kinase which regulates actin filament dynamics. Phosphorylates and inactivates the actin binding/depolymerizing factor cofilin, thereby stabilizing the actin cytoskeleton. LIMK1 may be involved in brain development; it is highly expressed in both adult and fetal nervous system. Detected ubiquitously throughout the different regions of adult brain, with highest levels in the cerebral cortex. Expressed to a lesser extent in heart and skeletal muscle.

This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additi