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FBN1 | Fibrillin-1; Fibrillin-1- Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues. Fibrillin-1- containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus w [...] (2871 aa) | |||
PMPCA | Mitochondrial-processing peptidase subunit alpha; Cleaves presequences (transit peptides) from mitochondrial protein precursors; Belongs to the peptidase M16 family (525 aa) | |||
LCN2 | Neutrophil gelatinase-associated lipocalin; Iron-trafficking protein involved in multiple processes such as apoptosis, innate immunity and renal development. Binds iron through association with 2,5-dihydroxybenzoic acid (2,5- DHBA), a siderophore that shares structural similarities with bacterial enterobactin, and delivers or removes iron from the cell, depending on the context. Iron-bound form (holo-24p3) is internalized following binding to the SLC22A17 (24p3R) receptor, leading to release of iron and subsequent increase of intracellular iron concentration. In contrast, association o [...] (198 aa) | |||
NUDT8 | Nucleoside diphosphate-linked moiety X motif 8; Probably mediates the hydrolysis of some nucleoside diphosphate derivatives; Nudix hydrolase family (236 aa) | |||
C4orf26 | Odontogenesis associated phosphoprotein; May promote nucleation of hydroxyapatite (176 aa) | |||
ANKRD50 | Ankyrin repeat domain-containing protein 50; Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1; Ankyrin repeat domain containing (1429 aa) |