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KIF5A

KIF5A

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

What is the official name of the KIF5A gene?

The official name of this gene is “kinesin family member 5A.”

KIF5A is the gene's official symbol. The KIF5A 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 KIF5A gene?

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

This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]

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

Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL).

How are changes in the KIF5A gene related to health conditions?

Genetics Home Reference provides information about rheumatoid arthritis, which is associated with changes in the KIF5A gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the KIF5A gene's known or predicted involvement in human disease.

Spastic paraplegia 10, autosomal dominant (SPG10): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. 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 KIF5A gene.
  • Spastic paraplegia 10
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 KIF5A gene and its association with health conditions.
OMIM
Number
Title

Where is the KIF5A gene located?

Cytogenetic Location: 12q13.13

Molecular Location on chromosome 12: base pairs 57,550,063 to 57,584,770

The KIF5A gene is located on the long (q) arm of chromosome 12 at position 13.13.

The KIF5A gene is located on the long (q) arm of chromosome 12 at position 13.13.

More precisely, the KIF5A gene is located from base pair 57,550,063 to base pair 57,584,770 on chromosome 12.

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

Where can I find additional information about KIF5A?

You and your healthcare professional may find the following resources about KIF5A 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 KIF5A gene or gene products?

  • D12S1889
  • MY050
  • NKHC
  • SPG10

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 KIF5A?

autosomal ; autosomal dominant ; gene ; incontinence ; intracellular ; microtubule ; motor ; neurofilament ; organelle ; paraplegia ; progression ; spasticity

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: September 1, 2015