jueves, 29 de enero de 2015

SPECC1L - sperm antigen with calponin homology and coiled-coil domains 1-like - Genetics Home Reference

SPECC1L - sperm antigen with calponin homology and coiled-coil domains 1-like - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the SPECC1L gene?

The official name of this gene is “sperm antigen with calponin homology and coiled-coil domains 1-like.”
SPECC1L is the gene's official symbol. The SPECC1L 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 SPECC1L gene?

The SPECC1L gene provides instructions for making a protein called cytospin-A. This protein stabilizes components of the cell's structural framework (cytoskeleton) called microtubules, which are rigid, hollow fibers that help maintain the cell's shape. Stabilization of microtubules is necessary for these fibers to regulate various cell processes including the movement of cells to their proper location (cell migration). In order for cells to move, microtubules elongate in a specific direction, changing the shape of the cytoskeleton and allowing the cell to move in that direction. Migration of cells to their proper location during development ensures normal tissue formation.
During development of the embryo, cytospin-A plays a role in the migration of cells called neural crest cells, which originate in the developing spinal cord and migrate to specific regions in the embryo to form different structures. Cytospin-A is specifically involved in the migration of neural crest cells that come together to form the forehead, nasal bridge, and lower jaw.

How are changes in the SPECC1L gene related to health conditions?

Opitz G/BBB syndrome - caused by mutations in the SPECC1L gene
At least two mutations in the SPECC1L gene have been found to cause Opitz G/BBB syndrome. This condition causes several abnormalities along the midline of the body, including widely spaced eyes (ocular hypertelorism), throat malformations that can cause difficulty breathing or swallowing, brain malformations, distinct facial features, and genital abnormalities in males. The SPECC1L gene mutations that cause Opitz G/BBB syndrome change single protein building blocks (amino acids) in the cytospin-A protein, reducing the protein's ability to interact with components of the cytoskeleton. As a result, microtubules are disorganized and cells have trouble migrating to their proper location. Because the SPECC1L gene plays a role in facial development, mutations in this gene likely account for an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) seen in some individuals with Opitz G/BBB syndrome. However, it is unclear how SPECC1L gene mutations cause the other features of this disorder.
other disorders - caused by mutations in the SPECC1L gene
Mutations in the SPECC1L gene have also been found to cause openings in facial structures called oblique facial clefts, also known as Tessier clefts. These clefts are similar to cleft lip and palate, but are more severe. The facial clefts can occur on one or both sides of the face; they typically involve the mouth and can include tissues up to the eyes. Health problems experienced by affected individuals depend on the severity of the cleft, but generally include problems eating and breathing.
The SPECC1L gene mutations that cause oblique facial clefts diminish the function of the cytospin-A protein. As a result, the protein cannot interact with the cytoskeleton, and microtubules are disorganized. These problems with the cytoskeleton impair cell migration, particularly of cells that come together to form the structures of the face. A decrease in cytospin-A function impairs cell migration during facial development, leaving openings, or clefts, where tissue should normally be.

Where is the SPECC1L gene located?

Cytogenetic Location: 22q11.23
Molecular Location on chromosome 22: base pairs 24,270,816 to 24,417,739
The SPECC1L gene is located on the long (q) arm of chromosome 22 at position 11.23.
The SPECC1L gene is located on the long (q) arm of chromosome 22 at position 11.23.
More precisely, the SPECC1L gene is located from base pair 24,270,816 to base pair 24,417,739 on chromosome 22.

Where can I find additional information about SPECC1L?

You and your healthcare professional may find the following resources about SPECC1L 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 SPECC1L gene or gene products?

  • cytokinesis and spindle organization A
  • cytospin A
  • KIAA0376

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 SPECC1L?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (5 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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