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12 Possible Causes for ANGPTL5, human, protein

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  • Familial Progressive Cardiac Conduction Defect

    Back to: « Cardiac conduction defect Symptoms of Familial progressive cardiac conduction defect Symptoms : The Human Phenotype Ontology (HPO) provides the following list of[familydiagnosis.com] The LMNA , ZFHX3 , MMP2 and ANGPTL5 SNVs were all novel and family-specific mutations ( Table 5 ).[journals.plos.org] The two other missense proteins were found in exon 5 and exon 17, also altering the protein, with arginine substituting for tryptophan (pArg114TRP) and the other glycine for[healio.com]

  • Familial Progressive Cardiac Conduction Defect Type 2

    […] clinicians and researchers by tying lessons learned about the rare diseases to our understanding of the common diseases Stresses basic pathologic mechanisms that account for human[books.google.com] The LMNA , ZFHX3 , MMP2 and ANGPTL5 SNVs were all novel and family-specific mutations ( Table 5 ).[journals.plos.org] 1 Hypertrophic Cardiomyopathy (HCM) Legius Syndrome SURF1 Surfeit Locus Protein 1 Leigh Syndrome COX Deficiency SYNE1 Spectrin Repeat-Containing Nuclear Envelope Protein[bcm.edu]

  • Anauxetic Dysplasia

    This information comes from a database called the Human Phenotype Ontology (HPO) .[rarediseases.info.nih.gov] ALOX15, ALOX5, ALOX5AP, ALOXE3, ALPL, ALS2, ALS2CL, ALX1, ALX3, ALX4, AMACR, AMELX, AMELY, AMER1, AMH, AMHR2, AMN, AMPD1, AMPD3, AMT, ANAPC1, ANG, ANGPT1, ANGPTL3, ANGPTL4, ANGPTL5[inteligene.com.br] POP1 Human Genome Epidemiology (HuGE) Navigator POP1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: POP1 No data available for Genatlas for POP1 Gene RNA-protein[genecards.org]

  • Partington-Anderson Syndrome

    The normal ARX protein contains four regions where a protein building block (amino acid) called alanine is repeated multiple times.[ghr.nlm.nih.gov] AAMDC , ABCC8 , ACAT1 , ACCS , ACCSL , ACER3 , ACY3 , ADAMTS8 , ADM , ADRBK1 , AGBL2 , AHNAK , AIP , ALDH3B1 , ALDH3B2 , ALG8 , ALG9 , ALKBH3 , ALKBH8 , ALX4 , AMICA1 , ANGPTL5[mendelmd.org] OMIM ID Human Disease OMIM:600356 Pachydermodactyly, Familial OMIM:610279 Pachygyria, Frontotemporal OMIM:600176 Pachygyria with Mental Retardation, Seizures, and Arachnoid[informatics.jax.org]

  • Nestor-Guillermo Progeria Syndrome

    Less than 1% of human primary somatic cells can usually turn into iPSCs.[aimspress.com] {Reduced triglycerides, susceptibility to} (3) ANGPTL5 G:607666 . . ANGPTL6 G:609336 . . ANIB1 P:105800 . . ANIB2 P:608542 . . ANIB3 P:609122 . . ANIB4 P:610213 . .[usegalaxy.org] Cell signaling mechanisms often transmit information via posttranslational protein modifications, most importantly reversible protein phosphorylation.[scienceopen.com]

  • AICA-Ribosiduria

    […] line (HepG2), sarcoma osteogenic cells (Saos-2), human embryonic kidney cells (HEK293), human skin fibroblasts (SF) and primary human keratinocytes (KC) cultured in purine-depleted[ncbi.nlm.nih.gov] {Reduced triglycerides, susceptibility to} (3) ANGPTL5 G:607666 . . ANGPTL6 G:609336 . . ANIB1 P:105800 . . ANIB2 P:608542 . . ANIB3 P:609122 . . ANIB4 P:610213 . .[usegalaxy.org] AICAR induction of TXNIP depended on MondoA, but was independent of AMPK (AMP-activated protein kinase) activation and calcium.[biochemj.org]

  • Combined Oxidative Phosphorylation Deficiency Type 24

    […] the biology of human nutrition at the molecular, cellular, tissue, and whole-body levels.[books.google.de] {Reduced triglycerides, susceptibility to} (3) ANGPTL5 G:607666 . . ANGPTL6 G:609336 . . ANIB1 P:105800 . . ANIB2 P:608542 . . ANIB3 P:609122 . . ANIB4 P:610213 . .[usegalaxy.org] View all proteins of this organism that are known to be involved in the pathway polypeptide chain elongation and in Protein biosynthesis .[uniprot.org]

  • Combined Oxidative Phosphorylation Deficiency Type 3

    Western blot - AIF Human Profiling ELISA Kit (ab126583) Anti-AIF antibody [7F7AB10] ( ab110327 ) at 5 µg/ml Human heart tissue lysate - mitochondrial extract ( ab110337 )[abcam.com] {Reduced triglycerides, susceptibility to} (3) ANGPTL5 G:607666 . . ANGPTL6 G:609336 . . ANIB1 P:105800 . . ANIB2 P:608542 . . ANIB3 P:609122 . . ANIB4 P:610213 . .[usegalaxy.org] ; decreases the levels of mitochondrial protein synthesis.[uniprot.org]

  • Premature Chromatid Separation Trait

    The sequence of events was haploid groupings of the chromosomes in normal, human metaphase cells, followed by genomic doubling to homozygousdiploidy.[file.scirp.org] {Reduced triglycerides, susceptibility to} (3) ANGPTL5 G:607666 . . ANGPTL6 G:609336 . . ANIB1 P:105800 . . ANIB2 P:608542 . . ANIB3 P:609122 . . ANIB4 P:610213 . .[usegalaxy.org] Contains 1 protein kinase domain.[abcam.com]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Human genomes (the complete set of genes or genetic material present in a cell or organism) consist of 3 million DNA base pairs.[dna.universeofatoms.com] {Reduced triglycerides, susceptibility to} (3) ANGPTL5 G:607666 . . ANGPTL6 G:609336 . . ANIB1 P:105800 . . ANIB2 P:608542 . . ANIB3 P:609122 . . ANIB4 P:610213 . .[usegalaxy.org] […] in InterPro IPR036236 Znf_C2H2_sf IPR013087 Znf_C2H2_type SMART i View protein in SMART SM00355 ZnF_C2H2, 13 hits SUPFAM i SSF57667 SSF57667, 7 hits PROSITE i View protein[uniprot.org]