Denigma

BLM

Symbol: BLM
Name: Bloom syndrome, RecQ helicase-like
Entrez gene ID: 641
Ensembl gene ID: ENSG00000197299
Species: Human (Taxid: 9606)

Functional description:
BLM encodes a DNA helicase of the Rec family.; Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. [UniProt]

Observation:

BLM mutation cuases Bloom syndrom. Individuals with Bloom syndrome have a shortend life expectancy []. Death is primary due to cancer, particulary leukemia and lymphoma [German, 1992]. Bloom syndrome is not a premature aging disease. Bloom syndrome characteristics are grwoth deficiency, sun-snesitivity, telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability [5770175].



Interventions:
  • BLM mutation

    • Assays: Organismal Lifespan

    Classification:
  • Aging-Suppressor
  • Negative Aging-Suppressor


    • Aging Relevance Analysis/Source:
  • GenAge
  • GenDR

    • Homologs
  • BLM (9606)
  • BLM (9598)
  • BLM (9913)
  • Blm (10090)
  • Blm (10116)
  • BLM (9031)
  • blm (7955)
  • RECQI1 (3702)
  • Os11g0672700 (4530)
  • PFI0910w (5833)

    • Inparanoids
  • ENSP00000347232 (9606)
  • ENSMUSP00000080062 (10090)
  • ENSRNOP00000015065 (10116)
  • ENSMMUP00000025651 (9544)
  • YMR190C (4932)
  • SPAC2G11.12 (4896)
  • ENSP00000347232 (9606)



    • Edit \ Update (Admin) | Delete

    Comment on This Data Unit