Literature associating TPCN2 and mucolipidosis type IV
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 ...