CACNA2D4 gene

calcium voltage-gated channel auxiliary subunit alpha2delta 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

From UniProt:

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinal cone dystrophy 4

From UniProt:

Retinal cone dystrophy 4 (RCD4): Characterized by minimal symptoms except for slowly progressive reduction in visual acuity. [MIM:610478]

Cytogenetic Location: 12p13.33, which is the short (p) arm of chromosome 12 at position 13.33

Molecular Location: base pairs 1,791,957 to 1,922,606 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p13.33, which is the short (p) arm of chromosome 12 at position 13.33