HELLS cDNA Clone – Helicase, Lymphoid-Specific (Human)

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]

HELLS: 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 concanavalin-A in peripheral blood leukocytes. Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at lower levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in neoplastic cell lines including those derived from myeloid and lymphoid leukemias. Belongs to the SNF2/RAD54 helicase family. 9 isoforms of the human protein are produced by alternative splicing.

Protein type: Helicase; Apoptosis; EC 3.6.4.-; EC 3.6.1.-

Chromosomal Location of Human Ortholog: 10q24.2

Cellular Component: centric heterochromatin; chromosome, pericentric region

Molecular Function: protein binding

Biological Process: centric heterochromatin formation; lymphocyte proliferation; maintenance of DNA methylation; methylation-dependent chromatin silencing; multicellular organismal development

Disease: Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 4