M04D5.1

Caenorhabditis elegans

Predicted to enable protein disulfide isomerase activity. Predicted to be involved in protein folding and response to endoplasmic reticulum stress. Predicted to be located in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human P4HB (prolyl 4-hydroxylase subunit beta); PDIA2 (protein disulfide isomerase family A member 2); and PDILT (protein disulfide isomerase like, testis expressed).

grld-1

Caenorhabditis elegans

Predicted to enable RNA binding activity. Located in nucleus. Expressed in epithelial cell; lateral ganglion; muscle cell; and neurons. Is an ortholog of human RBM15 (RNA binding motif protein 15) and RBM15B (RNA binding motif protein 15B).

pdi-2

Caenorhabditis elegans

Enables protein disulfide isomerase activity and protein-glutamine gamma-glutamyltransferase activity. Contributes to peptidyl-proline 4-dioxygenase activity. Involved in IRE1-mediated unfolded protein response. Located in endoplasmic reticulum. Part of procollagen-proline 4-dioxygenase complex. Expressed in several structures, including germ line and hypodermis. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human P4HB (prolyl 4-hydroxylase subunit beta).

pdi-1

Caenorhabditis elegans

Enables protein disulfide isomerase activity and protein-glutamine gamma-glutamyltransferase activity. Involved in IRE1-mediated unfolded protein response. Predicted to be located in endoplasmic reticulum. Expressed in hypodermis. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human P4HB (prolyl 4-hydroxylase subunit beta).

sec-24.1

Caenorhabditis elegans

Predicted to enable SNARE binding activity and zinc ion binding activity. Predicted to be involved in COPII-coated vesicle cargo loading. Predicted to be located in endoplasmic reticulum exit site. Predicted to be part of COPII vesicle coat. Expressed widely. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human SEC24D (SEC24 homolog D, COPII coat complex component).

Phyh

Homo sapiens

This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Dcdc2

Homo sapiens

This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]

Sec24d

Rattus norvegicus

Predicted to enable SNARE binding activity and zinc ion binding activity. Predicted to be involved in COPII-coated vesicle cargo loading. Predicted to act upstream of or within in utero embryonic development. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be part of COPII vesicle coat. Predicted to be active in endoplasmic reticulum exit site. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to human SEC24D (SEC24 homolog D, COPII coat complex component); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; amphetamine.

Sec24d

Homo sapiens

The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Pex7

Homo sapiens

This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]