Progressive ankylosis protein
WebJun 17, 2024 · Craniometaphyseal dysplasia (CMD), a rare genetic bone disorder, is characterized by lifelong progressive thickening of craniofacial bones and metaphyseal flaring of long bones. The autosomal dominant form of CMD is caused by mutations in the progressive ankylosis gene ANKH (mouse ortholog Ank ), encoding a pyrophosphate … WebNov 16, 2001 · Progressive ankylosis protein homolog Gene ANKH Status UniProtKB reviewed (Swiss-Prot) Organism Homo sapiens (Human) Amino acids 492 Protein …
Progressive ankylosis protein
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WebDickkopf-related protein 1, an antagonist of Wnt/β-catenin signaling, has been reported to be either dysfunctional 88 or present at lower-than-normal levels in AS patients. 89 Serum levels of SOST are also lower in AS patients than healthy individuals. 90 Our recent work on ank/ank (progressive ankylosis) mice that have peripheral and spinal ... WebJul 27, 2016 · progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface Human Molecular …
WebMay 1, 2024 · Some mutations are thought to activate progressive ankylosis protein (ANK) and result in calcium pyrophosphate deposition disease (OMIM no. 118600), an autosomal dominant condition characterized by the accumulation of calcium pyrophosphate crystals in joints, resulting in a severe and painful form of arthritis. WebJan 1, 2008 · Progressive ankylosis (Ank and the human homolog, ANKH) is a transmembrane protein which regulates transport of inorganic pyrophosphate (PPi). ank/ank mice with a mutated ank gene, have...
WebDec 1, 2011 · The progressive ankylosis protein (ANK) regulates the transport of PP i, and progressive ankylosis gene (Ank) and knock-out (KO) mice feature a rapidly forming and thick cementum. We hypothesized that, besides affecting cementum formation, decreased extracellular PP i levels in Ank KO mice would also impact cementum regeneration. WebFeb 21, 2024 · CIMPR, also known as IGF2R, does not only mediate binding of M6P-tagged acid-hydrolase for their lysosomal delivery, but plays also a role in internalizing insulin-like growth factor binding protein 2 (IGF2), a ligand critically controlling proper embryonic development (Ghosh et al., 2003a).
WebThis family consists of several progressive ankylosis protein (ANK or ANKH) sequences. The ANK protein spans the outer cell membrane and shuttles inorganic pyrophosphate …
WebPR:000004036 progressive ankylosis protein (term hierarchy) InterPro Domains. IPR009887 Progressive ankylosis. Molecular Reagents less. All nucleic 139. Genomic 1. cDNA 135. Primer pair 2. Other 1. Microarray probesets 3. Other Accession IDs less. MGD-MRK-1323, MGI:1098556, MGI:88023 References more. Summaries. All 90 ... imca ethicsWebAug 27, 2007 · Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an increase in bizygomatic width, and prominent mandible. imca dynamic positioningWebMutation at the mouse progressive ankylosis (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. Here, we show that the ank locus encodes a multipass transmembrane protein (ANK) that is expressed in joints and other tissues and controls ... imca chassis buildersWebProgressive ankylosis protein homolog: Topological domain: 211 – 326: Cytoplasmic: Literature citations. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. imca duel in the desert 2021WebMar 9, 2024 · progressive ankylosis protein, fn54 protein GeneRIFs: Gene References Into Functions The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not … imca factory stock rulesNational Center for Biotechnology Information imc 8.4 config file downloadWebJul 27, 2016 · progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface Human Molecular Genetics Oxford Academic Journal Article The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to … list of joint commissioner of police delhi