RBM33 (RNA binding motif protein 33) is mapped to human chromosome 7q36.3. Duplication of the chromosomal regions involving RNA Binding Motif Protein 33 (RBM33) and Sonic Hedgehog (SHH) have been linked with agenesis of the corpus callosum.
RBM33 (RNA binding motif protein 33) is mapped to human chromosome 7q36.3. Duplication of the chromosomal regions involving RNA Binding Motif Protein 33 (RBM33) and Sonic Hedgehog (SHH) have been linked with agenesis of the corpus callosum.
The gene GCN1L1 (general control of amino-acid synthesis 1-like protein 1) is mapped to human chromosome 12q24. In Saccharomyces cerevisiae, the protein was shown to localize in the cytoplasm. Like in Saccharomyces, human GCN1L1 contains an EF3 (tran
alpha-D-Galactosidase A (GLA), a lysosomal enzyme, is a glycoside hydrolase that removes alpha-galactosyl moieties from glycolipid and glycoprotein glycans. Lack of GLA results in the accumulation of globotriaosylsphingosine (Gb3) in a variety of tis