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40 Possible Causes for TERF2, gene

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  • Diamond-Blackfan Anemia

    However, at present, only 50% to 60% of patients have an identifiable genetic lesion by ribosomal protein gene sequencing.[] , telomeric repeat binding factor 2; TINF2, TERF1-interacting nuclear factor 2; TERF2IP, TERF2 interacting protein (RAP1); POT1 protection of telomeres 1 homolog; TPP1, TIN2[] In addition, our novel approach may become a useful tool for screening gene copy numbers of known DBA genes.[]

  • Dyskeratosis Congenita

    Molecular cloning of tissue-specific transcripts of a transketolase related gene: Implications for the evolution of new vertebrate genes.[] TIN2 binds to TERF1 and TERF2, which bind directly to the telomeric DNA. Abnormal gene product .[] […] component, TERC (also known as hTR, 3q21–q28, MIM # 602322 ), and an ordered protein complex, termed shelterin, consisting of six proteins (gene names TERF1 [MIM # 600951 ], TERF2[]

  • Dentatorubral-Pallidoluysian Atrophy

    Using antibodies against a synthetic peptide corresponding to the sequence of the DRPLA gene product C terminus, we have identified the DRPLA gene product in normal human[] P54259 Q09472 ATN1 EP300 0.155 P54259 Q12805 ATN1 EFEMP1 0.147 P54259 Q14766 ATN1 LTBP1 0.148 P54259 Q14790 ATN1 CASP8 0.211 P54259 Q15323 ATN1 KRT31 0.147 P54259 Q15554 ATN1 TERF2[] Recently, part of the gene responsible for this disorder was cloned containing a CAG repeat, and predominant neuronal expression of the gene was proved only through Northern[]

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

    This region contains the lamin A/C gene (LMNA), a candidate gene encoding two proteins of the nuclear lamina, lamins A and C, produced by alternative splicing.[] 1 23345 Q8NF91 Y2H; Overlay binding assay Mislow JM , et al. 2002 SYNE3 spectrin repeat containing, nuclear envelope family member 3 161176 Q6ZMZ3 GST Lu W , et al. 2012 TERF2[] To our knowledge, this is the first report of LMNA gene mutations in Korean patients with EDMD2 and LGMD1B.[]

  • Hoyeraal-Hreidarsson Syndrome

    We therefore analysed the DKC1 gene in two HH families.[] The shelterin complex is composed of six proteins: TRF1, TRF2, TIN2, TERF2-interacting protein (RAP1), TPP1, and POT1.[] We report on the clinical course of an infant with HHS due to a novel mutation in the DKC1 gene and the particular finding of pontocerebellar hypoplasia.[]

  • Xeroderma Pigmentosum Complementation Group C

    Previous GeneCards Identifiers for XPC Gene GC03M014115 GC03M014161 GC03M014165 The protein encoded by this gene is a key component of the XPC complex, which plays an important[] Rezeptor, beta Cluster); TCRG (T-Zell Rezeptor, gamma Cluster); TCTE1 (T-Komplex-assoziiert-Testes-exprimiert 1); TDO2 (Tryptophan 2,3-Dioxygenase); TECTA (Tectorin alpha); TERF2[] Similar results were obtained for the DHFR gene.[]

  • Early Infantile Epileptic Encephalopathy 28

    Order single gene WWOX Order this gene as a single gene test.[] 16q22.1 - Bladder Cancer - Breast Cancer - Colorectal Cancer - Ovarian Cancer - Prostate Cancer CBFB 16q22.1 PEBP2B Somatic Translocation- Acute Myeloid Leukaemia - Leukaemia TERF2[] Order single gene KCNT1 Order this gene as a single gene test.[]

  • Coats Plus Syndrome

    Targeted sequencing of CTC1 gene is useful for genetic diagnosis in Coats plus and differential diagnosis for other patients with similar disease manifestations.[] […] and novel variations) for 15 candidate genes involved in telomere length maintenance activity ( TERF2IP, POT1, TERF1, OBFC1/STN1, CTC1, TERT, DKC1, WRAP53, TINF2, TPP1, TERF2[] The shelterin complex is composed of six proteins: TRF1, TRF2, TIN2, TERF2-interacting protein (RAP1), TPP1, and POT1.[]

  • Autosomal Dominant Dyskeratosis Congenita 2

    GeneHancer (GH) Regulatory Elements for TERC Gene Promoters and enhancers for TERC Gene - Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data[] FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, ETV6, CSF3R, ELANE, RPL15, G6PC3, RPL26, GFI1, ACD, TERF2IP, POT1, DDX41, TERF2[] The shelterin complex is composed of six proteins: TRF1, TRF2, TIN2, TERF2-interacting protein (RAP1), TPP1, and POT1.[]

  • Autosomal Recessive Ataxia Type Beauce

    A mutation in the synaptic nuclear envelope protein 1 (SYNE1) gene that is located on chromosome 6p25 results in premature termination of the protein.[] […] mitochondrial (putative) TBL2 transducin (beta)-like 2 TCP1 t-complex 1 TDG thymine-DNA glycosylase TDRD5 tudor domain containing 5 TENM2 teneurin transmembrane protein 2 TERF2[] It was first reported in 2007 as the first identified gene responsible for a recessively inherited pure cerebellar ataxia.[]

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