sábado, 12 de diciembre de 2015

TBC1D24 - TBC1 domain family member 24 - Genetics Home Reference

TBC1D24 - TBC1 domain family member 24 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


Reviewed December 2015

What is the official name of the TBC1D24 gene?

The official name of this gene is “TBC1 domain family member 24.”
TBC1D24 is the gene's official symbol. The TBC1D24 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 TBC1D24 gene?

The TBC1D24 gene provides instructions for making a protein whose specific function in the cell is unclear. Studies suggest the protein may have several roles in cells. The TBC1D24 protein belongs to a group of proteins that are involved in the movement (transport) of vesicles, which are small sac-like structures that transport proteins and other materials within cells. Research suggests that the TBC1D24 protein may also help cells respond to oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells. Studies indicate that the TBC1D24 protein is active in a variety of organs and tissues; it is particularly active in the brain and likely plays an important role in normal brain development. The TBC1D24 protein is also active in specialized structures called stereocilia. In the inner ear, stereocilia project from certain cells called hair cells. The stereocilia bend in response to sound waves, which is critical for converting sound waves to nerve impulses.

How are changes in the TBC1D24 gene related to health conditions?

DOORS syndrome - caused by mutations in the TBC1D24 gene
At least 10 mutations in the TBC1D24 gene have been identified in people with DOORS syndrome, a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.
Most of the TBC1D24 gene mutations that cause DOORS syndrome change single protein building blocks (amino acids) in the TBC1D24 protein sequence. These mutations are thought to reduce or eliminate the function of the TBC1D24 protein, but the specific mechanism by which loss of TBC1D24 function leads to the signs and symptoms of DOORS syndrome is not well understood.
other disorders - caused by mutations in the TBC1D24 gene
TBC1D24 gene mutations have also been identified in people with other seizure disorders, including familial infantile myoclonic epilepsy (FIME), progressive myoclonus epilepsy (PME), and a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of infancy 16). These mutations likely result in impairment of TBC1D24 protein functions related to the development of the brain, but the specific connection between the mutations and these disorders is unclear.
Genetics Home Reference provides information about malignant migrating partial seizures of infancy, which is also associated with changes in the TBC1D24 gene.

Where is the TBC1D24 gene located?

Cytogenetic Location: 16p13.3
Molecular Location on chromosome 16: base pairs 2,475,146 to 2,505,733
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)
The TBC1D24 gene is located on the short (p) arm of chromosome 16 at position 13.3.
The TBC1D24 gene is located on the short (p) arm of chromosome 16 at position 13.3.
More precisely, the TBC1D24 gene is located from base pair 2,475,146 to base pair 2,505,733 on chromosome 16.

Where can I find additional information about TBC1D24?

You and your healthcare professional may find the following resources about TBC1D24 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 TBC1D24 gene or gene products?

  • KIAA1171
  • skywalker homolog
  • TBC1 domain family member 24 isoform 1
  • TBC1 domain family member 24 isoform 2
  • TBC/LysM-associated domain containing 6
  • TLDC6

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 TBC1D24?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (7 links)

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

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