QuickView for CCHL1A3 (gene)

Gene Symbol:

CACNA1S Homo sapiens

Full name:

calcium voltage-gated channel subunit alpha1 S

Synonyms:

CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP, voltage-dependent L-type calcium channel subunit alpha-1S, calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis), calcium channel, voltage-dependent, L type, alpha 1S subunit, dihydropyridine receptor alpha 1 subunit, dihydropyridine-sensitive L-type calcium channel alpha-1 subunit, voltage-gated calcium channel subunit alpha Cav1.1

Genomic Location:

Chr 1: 199275263-199348317

Description:

This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility.

This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

HOXA4_Q2 ,  WTGAAAT_UNKNOWN ,  GGATTA_PITX2_Q2 ,  TEF1_Q6 ,  TGACAGNY_MEIS1_01 ,  CAGCTG_AP4_Q5 ,  PPARA_02

Cytogenetic Map:

1q32.1

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