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SMN1 - survival of motor neuron 1, telomeric

  • Synonym(s) : BCD541, GEMIN1, gemin-1, SMA1, SMA2, SMA3, SMNT, TDRD16A, tudor domain containing 16A
  • Previous symbols and names : SMA, SMA@, spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease)
  • Type : gene with protein product
  • Chromosomal location : 5q13.2
  • OMIM: 600354
  • HGNC: 11117
  • UniProtKB: Q16637
  • Genatlas: SMN1
  • Ensembl: ENSG00000172062
  • IUPHAR-DB: -
  • Reactome: Q16637
  • LOVD: SMN1

Diseases list

  : Assessed

Additional information

Health care resources for this gene

Specialised Social Services

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