solute carrier family 39 member 8
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]
Acts as a manganese and zinc influx transporter (PubMed:12504855, PubMed:26637978). Plays a role in manganese reabsorption in the proximal tubule of the kidney and in manganese uptake into the brain (PubMed:26637978).
From NCBI Gene:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
Congenital disorder of glycosylation 2N (CDG2N): A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. [MIM:616721]