hsd-3

Caenorhabditis elegans

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Human ortholog(s) of this gene implicated in CHILD syndrome and CK syndrome. Is an ortholog of human SDR42E2 (short chain dehydrogenase/reductase family 42E, member 2).

ck

Drosophila melanogaster

crinkled (ck) encodes a myosin VIIa homolog that is expected to have roles in cellular protrusion formation and cargo intracellular transport. ck hypomorphs are hearing defective and present abnormal chaetae and trichomes.

hsd-2

Caenorhabditis elegans

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Predicted to be located in membrane. Expressed in intestine. Human ortholog(s) of this gene implicated in CHILD syndrome and CK syndrome. Is an ortholog of human SDR42E2 (short chain dehydrogenase/reductase family 42E, member 2).

ERG26

Saccharomyces cerevisiae

C-3 sterol dehydrogenase; catalyzes the second of three steps required to remove two C-4 methyl groups from an intermediate in ergosterol biosynthesis; human homolog NSDHL implicated in CK syndrome, and can complement yeast null mutant; molecular target of natural product and antifungal compound FR171456

hsd-1

Caenorhabditis elegans

Enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity. Involved in nematode larval development and sterol biosynthetic process. Predicted to be located in membrane. Expressed in XXXL and XXXR. Human ortholog(s) of this gene implicated in CHILD syndrome and CK syndrome. Is an ortholog of human SDR42E1 (short chain dehydrogenase/reductase family 42E, member 1).

Chkb

Homo sapiens

Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]

Nsdhl

Rattus norvegicus

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in cholesterol metabolic process. Predicted to act upstream of or within hair follicle development; labyrinthine layer blood vessel development; and smoothened signaling pathway. Predicted to be located in lipid droplet. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in CHILD syndrome and CK syndrome. Orthologous to human NSDHL (NAD(P) dependent steroid dehydrogenase-like); PARTICIPATES IN alendronate pharmacodynamics pathway; cholesterol biosynthetic pathway; cholesterol ester storage disease pathway; INTERACTS WITH (+)-schisandrin B; 17alpha-ethynylestradiol; 17beta-estradiol.