World Library  
Flag as Inappropriate
Email this Article

Cav1.4

Article Id: WHEBN0014756741
Reproduction Date:

Title: Cav1.4  
Author: World Heritage Encyclopedia
Language: English
Subject: Channelopathy, Erythrokeratodermia variabilis, Clouston's hidrotic ectodermal dysplasia, GJB4, Q-type calcium channel
Collection:
Publisher: World Heritage Encyclopedia
Publication
Date:
 

Cav1.4

Calcium channel, voltage-dependent, L type, alpha 1F subunit
Identifiers
Symbols  ; AIED; COD3; COD4; CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; Cav1.4; Cav1.4alpha1; JM8; JMC8; OA2
External IDs IUPHAR: ChEMBL: GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Cav1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene.[1] This gene encodes a 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 of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incomplete X-linked congenital stationary night blindness type 2 (CSNB2).[1]

See also

References

  1. ^ a b "Entrez Gene: CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit". 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and USA.gov, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for USA.gov and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
 
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
 
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.
 


Copyright © World Library Foundation. All rights reserved. eBooks from Project Gutenberg are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.