The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 20 µg/ml.
Use a concentration of 1 µg/ml. Predicted molecular weight: 39 kDa.
Use at an assay dependent concentration.
Acts as a zinc-influx transporter.
Defects in SLC39A13 are the cause of Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD-EDS) [MIM:612350]. SCD-EDS is a 'spondylocheiro dysplastic form of Ehlers-Danlos syndrome'. The syndrome consists of a generalized skeletal dysplasia involving mainly the spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in addition to the EDS-like features. Clinical features included postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Patients have thin, hyperelastic skin and hypermobile small joints consistent with an Ehlers-Danlos-like phenotype. Radiologic features included mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints).