- rab-33 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable GTP binding activity and GTPase activity. Predicted to be located in Golgi apparatus and endosome. Human ortholog(s) of this gene implicated in Smith-McCort dysplasia 2. Is an ortholog of human RAB33B (RAB33B, member RAS oncogene family).
- MTOR-AS1 [Search on AGR]
Homo sapiens ASSOCIATED WITH Focal Cortical Dysplasia of Taylor; genetic disease; Smith-Kingsmore Syndrome; INTERACTS WITH 2-hydroxypropanoic acid; rac-lactic acid
- Slc47a1 [Search on AGR]
Homo sapiens This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
- Cotl1 [Search on AGR]
Homo sapiens This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]
- Rnf112 [Search on AGR]
Homo sapiens This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
- ZNF287 [Search on AGR]
Homo sapiens This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
- Nt5m [Search on AGR]
Homo sapiens This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
- grsm [Search on AGR]
Drosophila melanogaster granny smith (grsm) encodes a member of the M17 family of leucine aminopeptidases, a family of proteases broadly involved in a number of cellular processes. High throughput transcriptomic and proteomic analyses have implicated the product of grsm in the regulation of immune-, nervous- and immune-related processes.