NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Homozygous null mice die before E6.5-7.5. Heterozygous mice model Zhu-Tokita-Takenouchi-Kim syndrome, with growth retardation, cognitive impairment, skeletal abnormalities, kidney agenesis, hematopoietic abnormalities including leukopenia and immunoglobulin deficiency and impaired erythropoiesis. [provided by MGI curators]
Aps (Aps) encodes a diphosphoinositol-polyphosphate diphosphatase that hydrolyses a range of (di)nucleoside polyphosphates. It is involved in glucose and lipid homeostasis.
Is predicted to encode a protein with the following domains: Hemocyanin, copper containing domain; Hemocyanin/hexamerin middle domain; and Di-copper centre-containing domain superfamily.
WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]
Chitin synthase III; catalyzes the transfer of N-acetylglucosamine (GlcNAc) to chitin; required for synthesis of the majority of cell wall chitin, the chitin ring during bud emergence, and spore wall chitosan; contains overlapping di-leucine and di-acidic signals that mediate, respectively, intracellular trafficking by AP-1 and trafficking to plasma membrane by exomer complex; requires AP-3 complex for its intracellular retention
Divalent metal ion transporter; broad specificity for di-valent and tri-valent metals; post-translationally regulated by levels of metal ions; member of the Nramp family of metal transport proteins
Enables stearoyl-CoA 9-desaturase activity. Involved in unsaturated fatty acid biosynthetic process. Predicted to be located in membrane. Expressed in nerve ring and touch receptor neurons. Used to study alcohol use disorder. Is an ortholog of human FADS1 (fatty acid desaturase 1).
Fad2 (Fad2) encodes a transmembrane fatty acid desaturase that utilizes mono-unsaturated long-chain fatty acids (LCFAs) to synthesize di-unsaturated LCFAs. It is involved in the synthesis of the female pheromones.