- 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).
- R11F4.1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable glycerol kinase activity. Predicted to be involved in glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Predicted to be located in mitochondrion. Used to study glycerol kinase deficiency. Human ortholog(s) of this gene implicated in glycerol kinase deficiency. Is an ortholog of human GK (glycerol kinase); GK2 (glycerol kinase 2); and GK3 (glycerol kinase 3).
- 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]