Symbol: Hells Name: helicase, lymphoid specific Alias: PASG Entrez gene ID: 15201 Ensembl gene ID: ENSMUSG00000025001 Species: Mouse (Taxid: 10090) Functional description: Helicase that regulates chromatin remodeling for methylation; Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis. [UniProt] Observation: A hypomorphic deletion of helicase domains 3, 4 and part of 2, leads to expression of a C-terminal truncated Hells protein causing an extremely short lifespan. with 60% of homozyogous mutants dying after birth and remaining 40% surviving up to seven weeks (around 25 days) [15105378]. Hells disruption results in genomic hypomethylation, de-repression of silenced genes, and premature aging, characterized by decreased proliferation, increased replicative senescence, and altered expression of Bmi-1 and p16INK4a. Hells mutant exhibit significant hypoglycemia, low birth weight and growth retardation, and signs of premature aging such as greying hair and balding, reduced fat deposition, unstable gait, cachexia, and kyphosis [15105378]. Interventions: Assays: Organismal Lifespan Classification: Aging Relevance Analysis/Source: Homologs Inparanoids Edit \ Update (Admin) | Delete |
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