factograf
EN
Sign in

Protein-coding gene in the species Homo sapiens

KCNC3

KCNC3
All data from the card 17
Aliases
KCNC3, KSHIIID, KV3.3, SCA13, potassium voltage-gated channel subfamily C member 3
External IDs
OMIM: 176264; MGI: 96669; GeneCards: KCNC3
Chr.
Chromosome 19 (human)
Band
19q13.33
End
50,333,515 bp
Chr.
Chromosome 7 (mouse)
Band
7 B3|7 28.85 cM
End
44,604,754 bp
BioGPS
n/a
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
3748
Ensembl
ENSG00000131398
UniProt
Q14003
RefSeq (mRNA)
NM_004977NM_001372305
RefSeq (protein)
NP_004968NP_001359234
Location (UCSC)
Chr 19: 50.31 – 50.33 Mb

Potassium voltage-gated channel, Shaw-related subfamily, member 3 also known as KCNC3 or Kv3.3 is a protein that in humans is encoded by the KCNC3.

Function

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and comprises four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes.

Clinical significance

KCNC3 is associated with spinocerebellar ataxia type 13.

Read next

In 3 languages

Text from Wikipedia, CC BY-SA 4.0 · Source article