jmjd-1.2 encodes a PHD and JmjC domain-containing histone demethylase that is homologous to human PHF8, mutations in which are associated with mild X-linked mental retardation (XLMR) and cleft/lip palate; JMJD-1.2 exhibits H3K9me2 and H3K27me2 demethylase activity in vitro and loss-of-function mutations in jmjd-1.2 result in increased levels of H3K9me2 and H3K27me2 in protein lysates from mutant animals; jmjd-1.2 mutant animals also exhibit locomotion defects with increased wavelength, but normal amplitude, of sinusoidal movement; a jmjd-1.2::GFP fusion protein is strongly expressed in neurons where it localizes to the nucleus; fainter expression is also seen in muscle, intestine, and hypodermal cells; jmjd-1.2 expression in neurons is sufficient to rescue the locomotion defects.
Enables histone H3K27me2/H3K27me3 demethylase activity; histone H3K9 demethylase activity; and histone binding activity. Involved in mitochondrial unfolded protein response. Located in nucleus. Expressed in several structures, including germ cell; hypodermis; muscle cell; and neurons. Used to study syndromic X-linked intellectual disability. Human ortholog(s) of this gene implicated in melanoma; prostate cancer; and syndromic X-linked intellectual disability Siderius type. Is an ortholog of human KDM7A (lysine demethylase 7A).
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.