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
4 results
  1. TRPV4-Associated Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK201366
    ... TYPE IIC; HMSN2C 606845 GOLGI-ASSOCIATED PDZ AND COILED-COIL DOMAINS-CONTAINING PROTEIN; GOPC Gene structure. TRPV4 comprises 15 exons. Alternative splicing may ...
  2. WAC-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK465012
    ... in OMIM ) View in own window 615049 WW DOMAIN-CONTAINING ADAPTOR WITH COILED-COIL REGION; WAC 616708 DESANTO-SHINAWI SYNDROME; DESSH Gene structure. The longest WAC transcript variant NM_016628. ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></gene-summary><gene-summary ><gene-symbol >ABHD5</gene-symbol><name >abhydrolase domain containing 5, lysophosphatidic acid acyltransferase</name><ghr-page >https:// ...
  4. Nephronophthisis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Quick Reference for an explanation of nomenclature. Normal gene product . The longest NPHP3 transcript encodes a protein of 1,330 amino acids. NPHP3: Contains a coiled coil domain , a tubulin-tyrosine ligase domain, and a tetratrico ...