For further discussion, see Iles et al. Version 4. Five kindreds had SCN4A mutations. Two of his 3 offspring, all asymptomatic, were found to have the same mutation. McFadzean, A. No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients. This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells.
The major type of voltage-sensitive Ca(2+) channels in skeletal muscle is the slowly inactivating L-type that is sensitive to calcium channel blockers such as 1. A number sign (#) is used with this entry because susceptibility to malignant hyperthermia-5 (MHS5) is caused by heterozygous mutation in the CACNA1S gene.
EGL Genetics About EGL Genetics
1q, Hypokalemic periodic paralysis, type 1,AD, 3, CACNA1S mutation in the CACNL1A3 gene (CACNA1S; ) on chromosome 1q
Genes related to Malignant Hyperthermia 5 1 elite genes :.
He was classified as having hypokalemic periodic paralysis because of the typical age of onset, paralytic attacks that most often occurred after exercise, a low potassium level during a spontaneous attack, and the ability to precipitate an attack with insulin and glucose on 1 occasion. A significant fraction of CAV1.
CACNA1S (calcium voltagegated channel subunit alpha1 S)
Muscle Soft Tissue: contracture response to halothane on muscle biopsy testing contracture response to caffeine on muscle biopsy testing. Tanabe, T. In the mouse, the gene for the alpha-1 subunit, symbolized Cchl1a3, is mutant in 'muscular dysgenesis' mdga lethal autosomal recessive disorder in which there is total lack of excitation-contraction coupling in homozygotes Gluecksohn-Waelsch, ; Pai,
Video: Cacna1s omimi Gene Music using Protein Sequence of CACNA1S "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA 1S "
* - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S. Cytogenetic locations: 1q OMIM:
Malignant Hyperthermia Susceptibility 5 57 29 13 6.
OMIM Entry THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 TTPP1
Fontaine, B. Expert curators review the literature and organize it to facilitate your work.
Video: Cacna1s omimi Gene Music using Protein Sequence of CACNA1B "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, N TYPE, ALPHA 1B "
Calcium entry through Cav1. Thyrotoxic periodic paralysis TTPP; see is a frequent complication of thyrotoxicosis among Chinese men. In 6 affected members of a 4-generation South American family with a severe early-onset form of hypokalemic periodic paralysis HOKPP1;Ke et al.
The CACNA1S gene (calcium channel. CACNA1S gene homepage Gene symbol, CACNA1S OMIM - Diseases, HOKPP-1 (paralysis, hypokalemic, periodic, type 1 (HOKPP-1)). Complete information for CACNA1S gene (Protein Coding), Calcium (24) MalaCards diseases for CACNA1S Gene - From: HGMD, OMIM, ClinVar, GTR.
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Human Phenotype Ontology
A G-to-A transition causing the argto-his substitution RH; Autosomal dominant. Lunardi J. We are determined to keep this website freely accessible. However, Sternberg et al.
|Edit History:. Functional subunit structure of voltage-gated calcium channels. We are determined to keep this website freely accessible. Edit History:. Robinson RL|