SLC39A13

Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A13 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM

Full Name

solute carrier family 39 (zinc transporter), member 13

Function

Acts as a zinc-influx transporter.

Biological Process

Biological Process cellular zinc ion homeostasisManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process connective tissue developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process zinc ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL

Cellular Location

Golgi apparatus membrane

Involvement in disease

Ehlers-Danlos syndrome, spondylodysplastic type, 3 (EDSSPD3):
A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD3 is an autosomal recessive form characterized by a generalized skeletal dysplasia involving mainly the spine and striking clinical abnormalities of the hands, in addition to classic features of Ehlers-Danlos syndrome. Clinical features include postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Radiologic features include 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).