WebCHID1 is a GLYCO18 domain-containing protein that lacks catalytic amino acids and a chitin-binding domain. CHID1 interacts with the endocytic/sorting receptor stabilin-1 (STAB1; 608560) and is present in late endosomes and secretory lysosomes in alternatively activated macrophages (Kzhyshkowska et al., 2006). Cloning and Expression WebHuman CHIT1 ELISA Kit (ab246541) is a single-wash 90 min sandwich ELISA designed for the quantitative measurement of CHIT1 protein in cit plasma, edta plasma, hep plasma, …
Entry - #610539 - GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C ... - OMIM
WebJan 6, 2024 · CHIT1:chitinase 1 [Gene - OMIM - HGNC] Variant type: Duplication Cytogenetic location: 1q32.1 Genomic location: ... 614122) can be caused by a 24-bp duplication in exon 10 of the CHIT1 gene, resulting in activation of a cryptic 3-prime splice site, generating an mRNA with an in-frame deletion of 87 nucleotides. All chitotriosidase … WebCHIT1 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, CHIT1 Genome Browser, CHIT1 References ... OMIM 600031 Transcript ENST00000367229.5 … early 2000s japanese sports cars
Chitotriosidase: a marker and modulator of lung disease
WebTertiary efficacy end points included the percentage or absolute change from baseline to 9 months in activity of the serum biomarker chitotriosidase (CHIT1 [OMIM 600031]; chitotriosidase genotypes were established for all patients with respect to the common 24–base pair duplication at baseline so that values could be normalized or excluded ... WebMar 1, 1994 · We report the finding of a very marked increase in chitotrisidase activity in plasma of 30 of 32 symptomatic type 1 GD patients studied: the median activity being > 600 times the median value in plasma of healthy volunteers. In three GC-deficient individuals without clinical symptoms, only slight increases were noted. WebSubmitters for NM_003465.3(CHIT1):c.56-6G>A AND Chitotriosidase deficiency. Follow NCBI. Connect with NLM. National Library of Medicine 8600 Rockville Pike Bethesda, MD 20894. Web Policies FOIA HHS Vulnerability Disclosure. Help Accessibility Careers. NLM; NIH; HHS; USA.gov ... early 2000s kid computer games