NCIt synonyms : STARD11; GPBP; COL4A3BP; START Domain-Containing Protein 11 Gene; StAR-Related Lipid Transfer (START) Domain Containing 11 Gene; StAR-Related Lipid Transfer Protein 11 Gene; CERTL; Goodpasture Antigen-Binding Protein Gene; Ceramide Transporter Gene; Collagen Type IV Alpha 3 Binding Protein Gene; FLJ20597; CERT; Ceramide Transporter 1 wt Allele; MRD34; Collagen, Type IV, Alpha 3 (Goodpasture Antigen) Binding Protein Gene;
NCIt definition : Human CERT1 wild-type allele is located in the vicinity of 5q13.3 and is approximately
156 kb in length. This allele, which encodes ceramide transfer protein, is involved
in the regulation of trafficking of ceramides and diacylglycerol lipids. Mutation
of the gene is associated with autosomal dominant mental retardation type 34.;
NCIt note : One variant of the CERT1 gene may encode a protein with kinase activity, which may
phosphorylate the noncollagenous C-terminal domain of collagen type IV alpha-3. This
region of collagen type IV alpha-3 is associated with Goodpasture syndrome and phosphorylation
of this site may be involved in the pathological antigenicity of this protein. (J.
Biol. Chem. 274:12642-12649(1999));
OMIM relation