Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
132 results
  1. ACTG2 Visceral Myopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299311
    ... novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. ...
  2. Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK540960
    ... novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... synonym><synonym >alpha 2 actin</synonym><synonym >alpha-actin-2</synonym><synonym >cell growth-inhibiting gene 46 protein</synonym><synonym >growth-inhibiting gene 46</ ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... genetics/gene/acta2</url></topic><topic ><title >ACTB: actin beta</title><url >https://medlineplus.gov/genetics/gene/actb</url></topic><topic ><title >ACTG1: actin gamma ...
  5. Baraitser-Winter Cerebrofrontofacial Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK327153
    ... 1 ACTB database ACTB ACTB ACTG1 17q25 ​.3 Actin, cytoplasmic 2 ACTG1 database ACTG1 ACTG1 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein from ...
  6. FLNA Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1213
    ... nonsense , frameshift , and severe splicing variants ) throughout the gene or missense variants in the N-terminal actin-binding domain [ Walsh & Engle 2010 , Lange et al ...
  7. WAS-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1178
    ... Locus-Specific Databases HGMD ClinVar WAS Xp11 ​.23 Actin nucleation-promoting factor WAS CCHMC - Human Genetics Mutation Database (WAS) WAS database WAS WAS Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein from ...
  8. Emery-Dreifuss Muscular Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1436
    ... emerin and lamin A/C interact with nuclear actin, a component of the chromatin remodeling complex associated with the nuclear matrix, suggesting that either chromatin arrangement or gene transcription or both could be impaired in the ...
  9. Schimke Immunoosseous Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1376
    ... ClinVar SMARCAL1 2q35 SWI/SNF-related matrix-associated ... the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein from ...
  10. LZTR1- and SMARCB1-Related Schwannomatosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK487394
    ... SMARCB1 22q11 ​.23 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 SMARCB1 database UKE Hamburg SMARCB1 database SMARCB1 SMARCB1 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein from ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next · last