GRK6

Chr 5

G protein-coupled receptor kinase 6

Also known as: GPRK6

NCBI Gene: 2870 ENSG00000198055 UniProt: P43250 OMIM: 600869

The protein phosphorylates activated G protein-coupled receptors to initiate their desensitization and internalization, with particular involvement in dopamine receptor regulation in the striatum and chemokine receptor signaling. Mutations cause autosomal recessive dystonia-26 with early childhood onset, characterized by progressive movement disorders affecting the limbs and sometimes involving additional neurological features. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is poorly tolerated.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.57

LOEUF

GOF

Mechanism· predicted