- 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).
- Rgsc1472 [Search on AGR]
Mus musculus PHENOTYPE: Mice with a mutation of this gene have reduced serum amylase activity (AMY). [provided by MGI curators]
- Amy-p [Search on AGR]
Drosophila melanogaster Amylase proximal (Amy-p) encodes one of three amylases encoded in the Drosophila genome. It is a digestive enzyme required for the hydrolysis of dietary starch.
- MTOR-AS1 [Search on AGR]
Homo sapiens ASSOCIATED WITH genetic disease; Smith-Kingsmore Syndrome; INTERACTS WITH 2-hydroxypropanoic acid; rac-lactic acid
- Amy-d [Search on AGR]
Drosophila melanogaster Amylase distal (Amy-d) encodes one of three amylases encoded in the Drosophila genome. It is a digestive enzyme required for the hydrolysis of dietary starch.
- dhcr-7 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable 7-dehydrocholesterol reductase activity and sterol delta7 reductase activity. Predicted to be involved in brassinosteroid biosynthetic process and cholesterol biosynthetic process. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in several diseases, including Greenberg dysplasia; Pelger-Huet anomaly; and Smith-Lemli-Opitz syndrome. Is an ortholog of human DHCR7 (7-dehydrocholesterol reductase).
- 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]