SMIM34A

The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

Description

Small integral membrane protein 34A

Tissue specificity

Tissue enhanced (fallopian tube, kidney)

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins

Chromosome

21 (34418715 - 34423951)

Ensembl ID

ENSG00000243627  (ver. 103.38)

Orthologs

-

UniProt

A8MWV9

neXtProt

NX_A8MWV9

Human splice variants

Protein structure