Crybb1 protein
WebPharos : Target Details - CRYBB1 Crystallins are the dominant structural components of the vertebrate eye lens. Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. WebCRYBB1 protein expression summary - The Human Protein Atlas. CRYBB1. PROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA. CRYBB1 …
Crybb1 protein
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WebGene ID: 1414 Gene type: protein coding About CRYBB1 Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:26,599,278-26,618,027 (from NCBI) This gene has 2 transcripts (splice variants), 186 orthologues, 14 paralogues and is associated with 6 phenotypes. Broad expression in placenta (RPKM 1.8), spleen (RPKM 0.7) and 21 other … WebMar 21, 2024 · CRYBB1 crystallin beta B1 Gene ID: 1414, updated on 22-May-2024 Gene type: protein coding Also known as: CATCN3; CTRCT17 See all available tests in GTR for this gene Go to complete Gene record for CRYBB1 Go to Variation Viewer for CRYBB1 variants Summary Crystallins are separated into two classes: taxon-specific, or enzyme, …
WebNM_001887.4(CRYBB1):c.-7G>A AND Cataract 17 multiple types Clinical significance: Uncertain significance (Last evaluated: Jan 13, 2024) Review status: 1 star out of maximum of 4 stars WebNM_001887.4(CRYBB1):c.300C>T (p.Pro100_Trp101=) AND Cataract 17 multiple types Clinical significance: Uncertain significance (Last evaluated: Oct 17, 2024) Review status: 1 star out of maximum of 4 stars
WebOsteoarthritis is a major concern in the United States and worldwide. Current non-surgical and surgical approaches alleviate pain but show little evidence of cartilage restoration. Cell-based treatments may hold promise for the regeneration of hyaline cartilage-like tissue at the site of injury or wear. Cell–cell and cell–matrix interactions have been shown to drive … WebFeb 14, 2024 · Generated Crybb1-Cre line that recombines in microglia and BAMs in embryonic development ... Crybb1 encodes beta-crystallin B1, a protein highly expressed in the mouse and human eye and required to maintain the transparency of the eye lens. 28 Crybb1 has been reported as a microglia signature gene, 29, 30, 31 while expression in …
WebApr 9, 2024 · NM_001887.4(CRYBB1):c.300C>T (p.Pro100_Trp101=) Cite this record. Cite this record Close. Copy. Help Interpretation: Uncertain significance Review status: …
WebMar 21, 2024 · CRYBB1 (Crystallin Beta B1) is a Protein Coding gene. Diseases associated with CRYBB1 include Cataract 17, Multiple Types and Cataract Microcornea … russian plane at pearsonWebCRYBB1 mutations may be dominant or recessive [40]. Our family observation strongly suggests that the CRYBB1-p.G71S mutation is recessive, consistent with the recessive inheritance of the close p ... schedule dmv driving test paWeb重组人低分子量神经丝蛋白相关信息： 英文名称 Recombinant human NF-L protein, C-His 中文名称 重组人低分子量神经丝蛋白 英文别名 Neurofilament L; Neurofilament 68; Neurofilament triplet schedule dmv permit test onlineWebMar 8, 2024 · All 17 protein-coding gene exons were covered by exome capture sequencing, with CRYBB1 and CRYBA4 also having been previously covered by candidate gene amplicon sequencing. We detected two single-nucleotide variants that were shared between affected family members, absent from unaffected family members, and that … russian pipeline gas supplies to eu by routeWebDec 1, 2012 · CRYBgenes coding for β-crystallins vary in 5′-exon structure. The exons encoding the four structural motifs of the β-crystallin and γ-crystallin proteins are indicated by 1, 2, 3, and 4. Some mammals have an alternatively spliced exon in the first intron of CRYAA, but in humans this is a pseudoexon. Superfamily relationships schedule dmv registration appointment texasWebCRYBB1 protein, human CYP51A1 protein, human DNA-Binding Proteins Eye Proteins FYCO1 protein, human Intermediate Filament Proteins Microtubule-Associated Proteins Transcription Factors beta-Crystallin B Chain russian plane in yellowknifeWebJan 2, 2024 · Results: Genome-wide lens transcriptome analysis by RNA-seq revealed that the Cryba4-Crybb1 pair has the highest Pearson correlation coefficient between their … russian plane downed