TRPM7 gene

transient receptor potential cation channel subfamily M member 7

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]

From UniProt:

Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. Involved in TNF-induced necroptosis downstream of MLKL by mediating calcium influx. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin A1 (ANXA1).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1

From UniProt:

Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 (ALS-PDC1): A neurodegenerative disorder characterized by chronic, progressive and uniformly fatal amyotrophic lateral sclerosis and parkinsonism-dementia. Both diseases are known to occur in the same kindred, the same sibship and even the same individual. [MIM:105500]

Cytogenetic Location: 15q21.2, which is the long (q) arm of chromosome 15 at position 21.2

Molecular Location: base pairs 50,557,158 to 50,686,835 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q21.2, which is the long (q) arm of chromosome 15 at position 21.2
  • ALSPDC
  • CHAK
  • CHAK1
  • LTrpC-7
  • LTRPC7
  • TRP-PLIK