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CACNA1A

On this page, you will find information about a genetic change that was identified in a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the CACNA1A gene was identified in a female, age 8, with hypotonia, delayed brain myelination, and developmental delays (read full description).

Date of Report

May 13, 2016

Full Name

Calcium voltage-gated channel subunit alpha1 A

Location
Chromosome 19 (19p13.3)
CACNA1A-chr19-13346480_horiz.png

Function

The CACNA1A gene codes for the alpha-1 subunit of the CaV2.1 calcium channel. This subunit helps to form the pore of the channel where ions flow (Kordasiewicz et al., 2006).

Database Links

GeneCards: CACNA1A

MedlinePlus Genetics: CACNA1A

NCBI Gene: 773

OMIM: 601011

UniProtKB/Swiss-Prot: O00555

Clinical Significance

A change in this gene was identified in a UDN participant and other patients with similar symptoms (Luo et al, 2017).

Families affected by this condition have come together to form a Facebook group and nonprofit organization, the CACNA1A Foundation.

Gene CACNA1A
Inheritance Pattern Autosomal dominant
Position (hg19) chr19:g.13346480C>G
Transcript NM_001127221.1
DNA Change c.5018G>C
Protein Change p.Arg1673Pro
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