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
45 results
  1. AP-4-Associated Hereditary Spastic Paraplegia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK535153
    ... Next > AP-4-Associated Hereditary Spastic Paraplegia Synonyms: Adaptor Protein Complex 4 Deficiency (AP-4 Deficiency), AP-4- ... the International Registry and Natural History Study of Adaptor-Protein 4-Related Hereditary Spastic Paraplegia (updated 5-20- ...
  2. Spastic Paraplegia 15 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK570772
    ... spastizin, associates with the SPG11 protein and the adaptor protein complex 5 (AP-5) [ Hirst et al 2013 ]. ... Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020; ...
  3. Cherubism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1137
    ... of nomenclature. Normal gene product. SH3BP2 encodes the adaptor protein SH3-domain binding protein 2 (3BP-2), which ... 99:464-70 [ PubMed : 15772595 ] Deckert M. [The adaptor protein 3BP2 in leukocyte signaling]. Article in French. Med ...
  4. Spastic Paraplegia 11 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1210
    ... 2010 ] and is an accessory protein of the adaptor protein 5 complex [ Hirst et al 2011 ]. It is ... Seaman MN, Dacks JB, Robinson MS. The fifth adaptor protein complex. PLoS Biol. 2011; 9 :e1001170. [ PMC free ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... LDLRAP1</gene-symbol><name >low density lipoprotein receptor adaptor protein 1</name><ghr-page >https://medlineplus.gov/genetics/ ... FHCB1</synonym><synonym >FHCB2</synonym><synonym >LDL receptor adaptor ... >MGC34705</synonym></synonym-list><db-key- ...
  6. Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1287
    ... fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Mol Med. 2012; 18 :56– ...
  7. Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1197
    ... 2; TREM2 Molecular Pathogenesis TYROBP is a transmembrane adaptor protein that mediates the activation of a wide variety ... receptor that forms a complex with the transmembrane adaptor protein TYROBP. The TREM2-TYROBP protein complex regulates the ...
  8. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><title >LDLRAP1: low density lipoprotein receptor adaptor protein 1</title><url >https://medlineplus.gov/genetics/gene/ ... url></topic><topic ><title >TYROBP: transmembrane immune signaling ... related protein 1</title><url >https://medlineplus.gov/genetics/gene/ ...
  9. Familial Hypercholesterolemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK174884
    ... FAMILIAL, 4; FHCL4 605747 LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR ...
  10. Three M Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1481
    ... Obscurin-like protein 1 is a putative cytoskeletal adaptor protein that acts with cullin-7 in a common ...
first · previous · 1 · 2 · 3 · 4 · 5 · next · last