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ATP13A2

ATP13A2

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

What is the official name of the ATP13A2 gene?

The official name of this gene is “ATPase type 13A2.”

ATP13A2 is the gene's official symbol. The ATP13A2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ATP13A2 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity.

How are changes in the ATP13A2 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the ATP13A2 gene:
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the ATP13A2 gene's known or predicted involvement in human disease.

Kufor-Rakeb syndrome (KRS): A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia. The disease is caused by mutations affecting the gene represented in this entry.

Ceroid lipofuscinosis, neuronal, 12 (CLN12): A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ATP13A2 gene.
  • Parkinson disease 9
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the ATP13A2 gene and its association with health conditions.
OMIM
Number
Title

Where is the ATP13A2 gene located?

Cytogenetic Location: 1p36

Molecular Location on chromosome 1: base pairs 16,985,957 to 17,011,971

The ATP13A2 gene is located on the short (p) arm of chromosome 1 at position 36.

The ATP13A2 gene is located on the short (p) arm of chromosome 1 at position 36.

More precisely, the ATP13A2 gene is located from base pair 16,985,957 to base pair 17,011,971 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ATP13A2?

You and your healthcare professional may find the following resources about ATP13A2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ATP13A2 gene or gene products?

  • CLN12
  • HSA9947
  • KRPPD
  • PARK9

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ATP13A2?

ataxia ; atrophy ; autosomal ; autosomal recessive ; cation ; ceroid ; dementia ; gene ; homeostasis ; intracellular ; isoforms ; juvenile ; palsy ; parkinsonism ; pyramidal tract ; recessive ; syndrome ; transcript ; tremor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 22, 2014