Variants
Sign InSign Up

PINK1 Gene

PTEN induced kinase 1

ALIAS SYMBOLS

  • BRPK

Your Results

Sign In

Description

The PINK1 gene provides instructions for making a protein called PTEN induced putative kinase 1. This protein is found in cells throughout the body, with highest levels in the heart, muscles, and testes. Within cells, the protein is located in the mitochondria, the energy-producing centers that provide power for cellular activities. The function of PTEN induced putative kinase 1 is not fully understood. It appears to help protect mitochondria from malfunctioning during periods of cellular stress, such as unusually high energy demands.

Researchers believe that two specialized regions of PTEN induced putative kinase 1 are essential for the protein to function properly. One region, called the mitochondrial-targeting motif, serves as a delivery address: after the protein is made, this motif helps ensure that it is delivered to the mitochondria. Another region, called the kinase domain, probably carries out the protein's protective function.

CHROMOSOME

1


LOCATION

p36.12


LOCUS TYPE

gene with protein product

VARIANTS

247

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:14581

  • NCBI

    65018

  • OMIM

    608309

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.