Covered on Genetics Home Reference: retinitis pigmentosaFrom NCBI Gene: Retinitis pigmentosa 38From UniProt: Retinitis pigmentosa 38 (RP38): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:613862]

     From NCBI Gene: This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008] From UniProt: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces phosphorylation of MAPK1, MAPK2, FAK/PTK2 or RAC1. MERTK signaling plays a role in various processes such as macrophage clearance of apoptotic cells, platelet aggregation, cytoskeleton reorganization and engulfment. Functions in the retinal pigment epithelium (RPE) as a regulator of rod outer segments fragments phagocytosis. Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response by activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3.

The following transcription factors affect gene expression:

• NF-kappaB
• NF-kappaB1

Tissue specificity:

Not expressed in normal B- and T-lymphocytes but is expressed in numerous neoplastic B- and T-cell lines. Highly expressed in testis, ovary, prostate, lung, and kidney, with lower expression in spleen, small intestine, colon, and liver.

Molecular Function:

• Transmembrane Receptor Protein Tyrosine Kinase Activity
• Atp Binding

Biological Processes:

• Natural Killer Cell Differentiation
• Protein Phosphorylation
• Phagocytosis
• Cell Surface Receptor Signaling Pathway
• Cell-Cell Signaling
• Spermatogenesis
• Platelet Activation
• Secretion By Cell
• Substrate Adhesion-Dependent Cell Spreading
• Apoptotic Cell Clearance
• Protein Kinase B Signaling
• Positive Regulation Of Phagocytosis
• Leukocyte Migration
• Negative Regulation Of Lymphocyte Activation
• Retina Development In Camera-Type Eye
• Vagina Development
• Negative Regulation Of Leukocyte Apoptotic Process