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12 results
  1. Hereditary Sensory and Autonomic Neuropathy Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK49247
    ... Locus-Specific Databases HGMD ClinVar KIF1A 2q37 ​.3 Kinesin-like protein KIF1A KIF1A @ ... Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. Congenital Fibrosis of the Extraocular Muscles Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1348
    ... Engle EC. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon ... Liu Q, Zhao C. Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... genetics/gene/khdc3l</url></topic><topic ><title >KIF1B: kinesin family member 1B</title><url >https://medlineplus.gov/genetics/gene/kif1b</url></topic><topic ><title >KIF21A: kinesin family member 21A</title><url >https://medlineplus.gov/ ...
  4. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... 1 Protein TALPID3 KIAA0586 KIAA0586 KIF7 15q26 ​.1 Kinesin-like protein KIF7 KIF7 @ LOVD KIF7 KIF7 MKS1 ... SYNDROME 6; JBTS6 610937 RPGRIP1-LIKE; RPGRIP1L 611254 KINESIN FAMILY MEMBER 7; KIF7 611560 JOUBERT SYNDROME 7; ...
  5. Polycystic Kidney Disease, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1246
    ... Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  6. Hereditary Spastic Paraplegia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1509
    ... Pericak-Vance MA, Rubinsztein DC, Marchuk DA. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia ( ... in a Proband Genetic Counseling Resources Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  7. Spastic Paraplegia 3A - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK45978
    ... Pericak-Vance MA, Rubinsztein DC, Marchuk DA. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia ( ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  8. Congenital Dyserythropoietic Anemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5313
    ... CDA III) is caused by a mutation in kinesin family member, KIF23. Blood. 2013; 121 :4791–9. [ ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  9. DYT1 Early-Onset Isolated Dystonia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1492
    ... The early onset dystonia protein torsinA interacts with kinesin light chain 1. J Biol Chem. 2004; 279 : ... Differential Diagnosis Management Genetic Counseling Resources Molecular Genetics References Chapter Notes Bulk Download Bulk download GeneReviews data ...
  10. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... IFT-B complex in association with the heterotrimeric kinesin-2 motor, while downward (i.e., tip-to- ... posted live 26 April 2012 (ha) Original submission References Literature Cited Ackah RL, Yoeli D, Kueht M, ...
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