Primary Identifier | MGI:2444008 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 207165 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and methylated histone binding activity. Predicted to contribute to ATP-dependent activity, acting on DNA. Acts upstream of or within anterior/posterior pattern specification; embryonic placenta development; and endoderm development. Predicted to be located in several cellular components, including cell body; dendrite; and perinuclear region of cytoplasm. Predicted to be part of NURF complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; and retina. Used to study neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Human ortholog(s) of this gene implicated in Kaposi's sarcoma; alcohol dependence; and neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Orthologous to human BPTF (bromodomain PHD finger transcription factor). PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with embryonic growth arrest around early gastrulation and a greatly reduced ectoplacental cone. [provided by MGI curators] |