HELLS

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 have been described, but their biological validity has not been determined. [provided by RefSeq]

Full Name

HELLS

Function

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 (By similarity).

Biological Process

Cell cycle Source: UniProtKB-KW
Cell division Source: UniProtKB-KW
Cellular response to leukemia inhibitory factor Source: Ensembl
DNA methylation Source: GO_Central
DNA methylation-dependent heterochromatin assembly Source: UniProtKB
Kidney development Source: UniProtKB
Lymphocyte proliferation Source: UniProtKB
Maintenance of DNA methylation Source: UniProtKB
Negative regulation of intrinsic apoptotic signaling pathway Source: Ensembl
Pericentric heterochromatin assembly Source: UniProtKB

Cellular Location

Nucleus. Closely associated with pericentric heterochromatin.

Involvement in disease

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.