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).

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.

None

The disease may be caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the SNF2/RAD54 helicase family.

Tissue Specificity

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.

Cellular localization

• Nucleus
• Closely associated with pericentric heterochromatin.

Alternative names

PASG, SMARCA6, Nbla10143, HELLS, Lymphoid-specific helicase, Proliferation-associated SNF2-like protein, SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6

Database links

swissprot:Q9NRZ9 omim:603946 genbank:AAH30963 entrezGene:3070