DISEASES

Disease-gene associations mined from literature

Literature associating TPCN2 and mucolipidosis type IV

TPCN2 [ENSP00000294309]

Voltage-dependent calcium channel protein TPC2; Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal membrane. May be involved in smooth muscle contraction; Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily.

Synonyms:  TPCN2,  TPCN2p,  hTPCN2,  E7ETX0,  Q8NHX9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM