viernes, 1 de mayo de 2015

SMARCAD1 - SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 - Genetics Home Reference

SMARCAD1 - SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the SMARCAD1 gene?

The official name of this gene is “SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1.”
SMARCAD1 is the gene's official symbol. The SMARCAD1 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 SMARCAD1 gene?

The SMARCAD1 gene provides instructions for making two versions (isoforms) of the SMARCAD1 protein: a full-length isoform and a shorter, skin-specific isoform. The full-length isoform is active (expressed) in multiple tissues, where it regulates the activity of a wide variety of genes involved in maintaining the stability of cells' genetic information. The skin-specific isoform is expressed only in skin cells, and little is known about its function. However, it appears to play a critical role in the formation of dermatoglyphs, which are the patterns of skin ridges on the pads of the fingers that form the basis for each person's unique fingerprints. These ridges are also present on the toes, the palms of the hands, and the soles of the feet. Dermatoglyphs develop before birth and remain the same throughout life. The activity of the skin-specific isoform of the SMARCAD1 protein is likely one of several factors that determine each person's unique fingerprint pattern.

How are changes in the SMARCAD1 gene related to health conditions?

adermatoglyphia - caused by mutations in the SMARCAD1 gene
At least four mutations in the SMARCAD1 gene have been found to cause adermatoglyphia, which is the absence of dermatoglyphs on the hands and feet. Because affected individuals do not have skin ridges on the pads of their fingers, they cannot be identified on the basis of their fingerprints. Adermatoglyphia can occur without any related signs and symptoms, or it may be associated with other features, typically affecting the skin.
The mutations that cause adermatoglyphia affect the skin-specific isoform of the SMARCAD1 protein but not the full-length isoform. These genetic changes prevent the production of any functional skin-specific isoform from one copy of the gene, which reduces the total amount of this protein in skin cells. Although it is unclear how these genetic changes cause adermatoglyphia, researchers speculate that a shortage of the skin-specific version of the SMARCAD1 protein impairs signaling pathways needed for normal skin development and function, including the formation of dermatoglyphs.

Where is the SMARCAD1 gene located?

Cytogenetic Location: 4q22.3
Molecular Location on chromosome 4: base pairs 94,207,607 to 94,291,291
The SMARCAD1 gene is located on the long (q) arm of chromosome 4 at position 22.3.
The SMARCAD1 gene is located on the long (q) arm of chromosome 4 at position 22.3.
More precisely, the SMARCAD1 gene is located from base pair 94,207,607 to base pair 94,291,291 on chromosome 4.

Where can I find additional information about SMARCAD1?

You and your healthcare professional may find the following resources about SMARCAD1 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 SMARCAD1 gene or gene products?

  • ATP-dependent helicase 1
  • DKFZP762K2015
  • ETL1
  • HEL1
  • KIAA1122

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 SMARCAD1?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (9 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

No hay comentarios:

Publicar un comentario