C47D12.2

Caenorhabditis elegans

Predicted to be involved in Golgi organization. Located in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Smith-McCort dysplasia 1. Is an ortholog of human DYM (dymeclin).

rab-33

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).

M05D6.2

Caenorhabditis elegans

Predicted to be involved in signal transduction. Is an ortholog of human TCP11 (t-complex 11); TCP11L1 (t-complex 11 like 1); and TCP11L2 (t-complex 11 like 2).

RAB33B-AS1

Homo sapiens

ASSOCIATED WITH Smith-McCort dysplasia; INTERACTS WITH okadaic acid

mam-1

Caenorhabditis elegans

Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in regulation of T cell activation and regulation of T cell migration. Predicted to be located in membrane.

MTOR-AS1

Homo sapiens

ASSOCIATED WITH Focal Cortical Dysplasia of Taylor; genetic disease; Smith-Kingsmore Syndrome; INTERACTS WITH 2-hydroxypropanoic acid; rac-lactic acid

C35B8.3

Caenorhabditis elegans

Predicted to be located in mitochondrion. Is an ortholog of human TCAIM (T cell activation inhibitor, mitochondrial).

Slc47a1

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]

tbx-40

Caenorhabditis elegans

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell fate specification and regulation of transcription by RNA polymerase II. Predicted to be located in chromatin and nucleus. Expressed in phasmid neurons. Human ortholog(s) of this gene implicated in Abruzzo-Erickson syndrome; X-linked cleft palate with or without ankyloglossia; and bone disease (multiple). Is an ortholog of several human genes including TBX15 (T-box transcription factor 15); TBX4 (T-box transcription factor 4); and TBX6 (T-box transcription factor 6).

Cotl1

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]