Disease-gene associations mined from literature

Literature associating SLC30A10 and Hirata disease

SLC30A10 [ENSP00000355893]

Solute carrier family 30, member 10; Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. However, elevated levels of manganese are cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis. Acts as manganese efflux transporter and confers protection against manganese- induced cell death. Also acts as zinc transporter involved in zinc homeostasis. Seems to mediate zinc transport into early endosomes and recycling endosomes to prevent zinc toxicity; the function may be regulated by heterodimerization with other zinc transporters of the SLC30A subfamily. The SLC30A3:SLC30A10 heterodimer is involved in zinc transport-dependent regulation of the EGFR/ERK transduction pathway in endosomes. May be involved in regulation of zinc- dependent senescence of vascular smooth muscle cells.

Synonyms:  SLC30A10,  B3KR19,  Q6XR72,  B3KR19p,  hB3KR19 ...

Linkouts:  STRING  Pharos  UniProt  OMIM