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).

znf385a

Homo sapiens

Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008]

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]

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]

bro-1

Caenorhabditis elegans

Enables transcription corepressor activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; nematode male tail tip morphogenesis; and positive regulation of locomotion involved in locomotory behavior. Located in nucleus. Part of core-binding activity factor complex. Expressed in hypodermis; muscle cell; pharyngeal neurons; ray precursor cell; and uterine seam cell. Human ortholog(s) of this gene implicated in acute myelomonocytic leukemia and hepatocellular carcinoma. Is an ortholog of human CBFB (core-binding factor subunit beta).