SLC39A13 Antibody – Mouse Polyclonal

SLC39A13: Acts as a zinc-influx transporter. Defects in SLC39A13 are the cause of Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD-EDS). 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). Belongs to the ZIP transporter (TC 2.A.5) family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 11p11.2

Cellular Component: Golgi apparatus; perinuclear region of cytoplasm; integral to membrane; integral to Golgi membrane

Molecular Function: protein homodimerization activity; zinc ion transmembrane transporter activity

Biological Process: cellular zinc ion homeostasis

Disease: Spondylocheirodysplasia, Ehlers-danlos Syndrome-like