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USH1C | Usher syndrome 1C (autosomal recessive, severe); Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity) (899 aa) | |||
COMP | cartilage oligomeric matrix protein; May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BI [...] (757 aa) | |||
LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Decreases the binding of JAGGED1 to NOTCH2 but not that of DELTA1. Essential mediator of somite segmentation and patterning (By similarity) (379 aa) | |||
DCLK1 | doublecortin-like kinase 1; Probable kinase that may be involved in a calcium- signaling pathway controlling neuronal migration in the developing brain. May also participate in functions of the mature nervous system (729 aa) | |||
LNX1 | ligand of numb-protein X 1, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65 (By similarity) (728 aa) | |||
PDZD2 | PDZ domain containing 2 (2839 aa) | |||
GRASP | GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein; Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses (By similarity) (395 aa) | |||
IL16 | interleukin 16; Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4 (1332 aa) | |||
RFNG | RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. May be involved in limb formation and in neurogenesis (By similarity) (331 aa) | |||
KRTAP10-8 | keratin associated protein 10-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (259 aa) | |||
MATN4 | matrilin 4 (581 aa) | |||
TCF4 | transcription factor 4 (671 aa) | |||
MFNG | MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; Glycosyltransferase involved in the elongation of O- linked ligands to activate Notch signaling. Possesses fucose- specific beta-1,3-N-acetylglucosaminyltransferase activity (321 aa) | |||
PARD3B | par-3 partitioning defective 3 homolog B (C. elegans); Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions (1143 aa) | |||
DLL1 | delta-like 1 (Drosophila); Acts as a ligand for Notch receptors. Blocks the differentiation of progenitor cells into the B-cell lineage while promoting the emergence of a population of cells with the characteristics of a T-cell/NK-cell precursor (723 aa) | |||
NEURL | neuralized homolog (Drosophila); May function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1, thereby regulating the Notch pathway (By similarity) (574 aa) | |||
NEURL1B | neuralized homolog 1B (Drosophila); E3 ubiquitin-protein ligase involved in regulation of the Notch pathway through influencing the stability and activity of several Notch ligands (555 aa) | |||
INADL | InaD-like (Drosophila) (1801 aa) | |||
DLG5 | discs, large homolog 5 (Drosophila) (1919 aa) | |||
MATN1 | matrilin 1, cartilage matrix protein; Cartilage matrix protein is a major component of the extracellular matrix of non-articular cartilage. It binds to collagen (496 aa) | |||
FRMPD2 | FERM and PDZ domain containing 2; May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (1309 aa) | |||
CASK | calcium/calmodulin-dependent serine protein kinase (MAGUK family) (921 aa) | |||
MPDZ | multiple PDZ domain protein (2041 aa) | |||
MATN3 | matrilin 3; Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks (486 aa) | |||
ACAN | aggrecan; This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region (2530 aa) | |||
MATN2 | matrilin 2 (956 aa) |