C10orf11
WebMay 17, 2024 · C10ORF11 (also known as LRMDA) is a little-studied gene that encodes a protein involved with melanocyte differentiation . Previous studies have proposed that loss of C10ORF11 is associated with the developmental delays observed in patients with 10q21.3q22.2 deletions . WebPreviously, four types of non-syndromic OCA (type I-IV, based on gene involved) have been described. Their prevalence varies among different populations (Lewis 2013). A recently identified locus that maps to 4q24 chromosomal region has been termed OCA5. SLC24A5 and LRMDA (C10orf11) genes, also designated as OCA6 and OCA7, respectively.
C10orf11
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WebMar 7, 2013 · The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, … WebC10ORF11. Search For A Disorder. Albinism, Oculocutaneous, Type VII. Clinical Characteristics. Ocular Features: Nystagmus and iris transillumination are present in all family members studied. VEP studies show asymmetric decussation of axons in the chiasm.
WebRecombinant protein fragment of Human C10ORF11 with N-terminal His6ABP (ABP = Albumin Binding Protein derived from Streptococcal Protein G) fusion tag. Packaging. 100 μL. Application. Suitable as a blocking agent using corresponding antibodies. Linkage. Corresponding Antibody HPA047446. http://partsmanuals.org/fullerpartsmanuals/FROF-11210C.pdf
WebFeb 7, 2013 · A single zebrafish homolog, c10orf11, is known and shows 69% similarity at both the nucleotide and amino acid levels ( Figure 4 A). mRNA expression was … WebThe green piechart indicates the level of reliability of the analyzed protein expression pattern based on available RNA-seq data, protein/gene characterization and immunohistochemical data from one or several antibodies with non-overlapping epitopes. Diseasei. The Human Disease Blood Atlas contains information on the protein levels in blood in ...
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WebInvitrogen Anti-C10orf11 Polyclonal, Catalog # PA5-111314. Tested in Western Blot (WB) and Immunocytochemistry (ICC/IF) applications. This antibody reacts with Human … graffen business solutionsWebThe breakpoint in 10q22 was found to disrupt C10orf11, a brain-expressed gene in the common deleted interval of patients 1–3. This finding suggests that haploinsufficiency of C10orf11 ... china best lubricated track link assemblyWebCustom Recombinant C10orf11 Protein Service. Contact Us. Fill in & email the inquiry form. Tel. Email. Protein Service Inquiry Form. +1-215-583-7898. [email protected]. CRO Service. graffen business systems conshohocken paWebImmunohistochemical analysis of paraffin-embedded human stomach tissue labeling C10orf11 with ab150986 at 1/1000 dilution. Heat mediated antigen retrieval was performed with citrate buffer pH 6 before commencing with IHC staining protocol. Immunocytochemistry/ Immunofluorescence - Anti-C10orf11 antibody (ab150986) ... china best mica powderWebBulk Order of Recombinant C10orf11 Protein. Please Leave Us a Message if you have any questions regarding bulk price quote of our products on the website, our customer … graffe online auctionWebGenCC: C10orf11; Ensembl: ENSG00000148655; IUPHAR-DB: -Reactome: -LOVD: LRMDA; Diseases list. Disease-causing germline mutation(s) in Oculocutaneous albinism type 7: ORPHA:352745 : Assessed. Additional information Patient-centred resources for this gene. Diagnostic tests (26) china best memory foam topperWebNov 12, 2024 · Oculocutaneous albinism has autosomal recessive inheritance, with an overall prevalence of 1/17000, and is caused by mutations in the TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and C10orf11 genes. Clinical diagnosis involves ophthalmological examination, testing of visually evoked potentials (VEP) and electrophysiological testing … china best mini wireless earbuds manufacturer