SLC39A8

Chr 4AR

solute carrier family 39 member 8

Also known as: BIGM103, CDG2N, LZT-Hs6, PP3105, ZIP8

NCBI Gene: 64116 ENSG00000138821 UniProt: Q9C0K1 OMIM: 608732

This protein functions as a divalent metal cation transporter that mediates cellular uptake of zinc, manganese, and selenium, which are essential for development, tissue homeostasis, and immune function. Mutations cause congenital disorder of glycosylation type IIn, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.465), reflecting its importance in cellular metal homeostasis across multiple organ systems including the nervous system, immune system, and hepatobiliary tract.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital disorder of glycosylation, type IInMIM #616721

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.47

LOEUF

LOF

Mechanism· G2P