CACNA1F (Gene)

Synonyms:AIED, CACNA1F, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, ENTREZ:778, HGNC:1393, JM8, JMC8, MIM:300110, NM_001256789, NM_001256790, NM_005183, NP_001243718, NP_001243719, NP_005174, OA2, XM_011543983, XM_017029836, XP_011542285, XP_016885325, calcium voltage-gated channel subunit alpha1 F
Id:ENSG00000102001
Entrez:778
Description:calcium voltage-gated channel subunit alpha1 F
This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View CACNA1F'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 CACNA1F.

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 CACNA1F.

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 CACNA1F.

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 CACNA1F.

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