Primary Identifier | MGI:106209 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 15201 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity. Involved in kidney development; lymphocyte proliferation; and negative regulation of gene expression, epigenetic. Acts upstream of or within several processes, including cellular response to leukemia inhibitory factor; chromosomal DNA methylation maintenance following DNA replication; and negative regulation of intrinsic apoptotic signaling pathway. Located in nucleus and pericentric heterochromatin. Is expressed in several structures, including gut; hippocampus; neural retina; reproductive system; and thymus. Human ortholog(s) of this gene implicated in immunodeficiency-centromeric instability-facial anomalies syndrome 4. Orthologous to human HELLS (helicase, lymphoid specific). PHENOTYPE: Homozygotes for a null allele show DNA hypomethylation, delayed growth, multiorgan and skeletal defects, premature graying, alopecia, low fat deposition, kyphosis, cachexia and early death. Homozygotes for another null allele show neonatal death, low birth weight, lymphoid defects and renal lesions. [provided by MGI curators] |