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Results 1 - 10 of 25 for protein syndrome
  1. Chromosome 17 
    ... accounts for the features of Koolen-de Vries syndrome. The protein produced from the KANSL1 gene is involved in ... the sleep disturbances that occur with Potocki-Lupski syndrome. Too much RAI1 protein may also disrupt brain development, which could account ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  2. Chromosome 1 
    ... number of important cellular functions that produce other proteins.The RBM8A gene variants that cause TAR syndrome reduce the amount of RNA-binding motif protein ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  3. Mitochondrial DNA 
    ... breathing.Some of the genes associated with Leigh syndrome provide instructions for making proteins that are part of the large enzyme complexes ... for protein production within mitochondria. Many of these proteins play an ... impair oxidative phosphorylation. Although the mechanism is unclear, ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  4. Chromosome 5 
    ... Ebert BL. Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome. Blood. 2011 Oct 27;118(17):4666-73. ...
    https://medlineplus.gov/genetics/chromosome/5 - Genetics
  5. Chromosome 16 
    ... function. The resulting changes in gene transcription and protein production likely alter development of various systems, causing the signs and symptoms of chromosome 16p13.3 duplication syndrome. National Human Genome Research Institute: Chromosome Abnormalities PubMed ...
    https://medlineplus.gov/genetics/chromosome/16 - Genetics
  6. Chromosome 2 
    ... and craniofacial structures, and a reduction in this protein's function impairs their normal development, leading to the features of the condition.The signs and symptoms of SATB2-associated syndrome are usually similar, regardless of the type of ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  7. Chromosome 22 
    ... and division (proliferation) and maturation (differentiation). Excess PDGFB protein ... Emanuel syndrome is caused by the presence of extra genetic ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  8. Chromosome 13 
    ... environment, for example by stimulating cell growth. The protein produced from the ... Feingold syndrome type 2 is caused by genetic changes that ...
    https://medlineplus.gov/genetics/chromosome/13 - Genetics
  9. Chromosome 11 
    ... genes that provide instructions for making proteins. These proteins perform a variety of different ... Beckwith-Wiedemann syndrome results from the abnormal regulation of genes on ...
    https://medlineplus.gov/genetics/chromosome/11 - Genetics
  10. Chromosome 21 
    ... Licht JD. AML1 and the AML1-ETO fusion protein in the pathogenesis of t(8;21) AML. Oncogene. 2001 Sep 10;20(40):5660-79. doi: 10.1038/sj.onc.1204593. No abstract available. Citation on PubMed Lubec G, Engidawork E. The brain in Down syndrome (TRISOMY 21). J Neurol. 2002 Oct;249(10): ...
    https://medlineplus.gov/genetics/chromosome/21 - Genetics
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