HELLS gene

helicase, lymphoid-specific

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]

From UniProt:

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.

From NCBI Gene:

  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4

From UniProt:

Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4): A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. [MIM:616911]

Cytogenetic Location: 10q24.2, which is the long (q) arm of chromosome 10 at position 24.2

Molecular Location: base pairs 94,545,767 to 94,613,905 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q24.2, which is the long (q) arm of chromosome 10 at position 24.2
  • ICF4
  • LSH
  • Nbla10143
  • PASG
  • SMARCA6