DISEASES

Disease-gene associations mined from literature

Literature associating SLC30A4 and congenital myasthenic syndrome 5

SLC30A4 [ENSP00000261867]

Solute carrier family 30 (zinc transporter), member 4; Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular compartment; Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.

Synonyms:  SLC30A4,  SLC30A4p,  hSLC30A4,  O14863,  SLC30A4-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM