CACNA1H (Gene)

Synonyms:CACNA1H, CACNA1HB, Cav3.2, ECA6, EIG6, ENTREZ:8912, HALD4, HGNC:1395, MIM:607904, NM_001005407, NM_021098, NP_001005407, NP_066921, XM_005255652, XM_006720963, XM_006720964, XM_006720965, XM_006720967, XM_006720968, XM_011522724, XM_011522727, XM_017023819, XM_017023820, XM_017023821, XP_005255709, XP_006721026, XP_006721027, XP_006721028, XP_006721030, XP_006721031, XP_011521026, XP_011521029, XP_016879308, XP_016879309, XP_016879310, XR_002957850, calcium voltage-gated channel subunit alpha1 H
Omim:OMIM:607904
Id:afca50f3-b488-52d8-a59b-f2cb4f1054e3
Hgnc:HGNC:1395
Entrez:8912
Description:calcium voltage-gated channel subunit alpha1 H
This gene encodes a T-type member of the alpha-1 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. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View CACNA1H's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with CACNA1H.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using CACNA1H.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for CACNA1H.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with CACNA1H.

Results found

Linked to

DISPLAY PER PAGE
This repository is under review for potential modification in compliance with Administration directives.