SLC39A6

Chr 18

solute carrier family 39 member 6

Also known as: LIV-1, LIV1, ZIP6

NCBI Gene: 25800 ENSG00000141424 UniProt: Q13433 OMIM: 608731

SLC39A6 encodes a zinc-influx transporter essential for cellular zinc homeostasis, T-cell receptor signaling, and proper cell division including mitosis and meiosis. Mutations cause autosomal recessive spondylocheiro dysplastic Ehlers-Danlos syndrome, characterized by connective tissue abnormalities, skeletal dysplasia, and hypermobile joints with onset in infancy or early childhood. This gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

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. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

Multiple*

Mechanism· predicted