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COL1A1 | collagen, type I, alpha 1 (1464 aa) | |||
ATXN1 | ataxin 1; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function (815 aa) | |||
FBN2 | fibrillin 2; Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2- containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity) (2912 aa) | |||
CBFA2T3 | core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (653 aa) | |||
DVL3 | dishevelled, dsh homolog 3 (Drosophila); May play a role in the signal transduction pathway mediated by multiple Wnt genes (716 aa) | |||
COL4A5 | collagen, type IV, alpha 5; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ’chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen (1691 aa) | |||
MATN4 | matrilin 4 (581 aa) | |||
FN1 | fibronectin 1 (2477 aa) | |||
COL4A2 | collagen, type IV, alpha 2; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ’chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen (1712 aa) | |||
COL4A6 | collagen, type IV, alpha 6 (1691 aa) | |||
HPCA | hippocalcin; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds two calcium ions (193 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) | |||
COL4A1 | collagen, type IV, alpha 1; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ’chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen (1669 aa) | |||
COL4A3 | collagen, type IV, alpha 3 (Goodpasture antigen) (1670 aa) | |||
COL4A4 | collagen, type IV, alpha 4; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ’chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen (1690 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) | |||
CBX6 | chromobox homolog 6; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A ’Lys-119’, rendering chromatin heritably changed in its expressibility (412 aa) | |||
ATXN1L | ataxin 1-like; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1) (By similarity) (689 aa) | |||
MATN2 | matrilin 2 (956 aa) |