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Results 1 - 5 of 5 for PAFAH1B1
  1. PAFAH1B1 gene 
    The PAFAH1B1 gene (also known as LIS1) provides instructions for making a protein that is one part (subunit) of a complex called platelet-activating factor ...
    https://medlineplus.gov/genetics/gene/pafah1b1 - Genetics
  2. Subcortical band heterotopia 
    ... individuals are female. Mutations in the DCX or PAFAH1B1 gene cause subcortical band heterotopia. Both genes provide ... or alter the protein's structure or stability. PAFAH1B1 gene mutations are less common. Mutations in this ...
    https://medlineplus.gov/.../condition/subcortical-band-heterotopia - Genetics
  3. Miller-Dieker syndrome 
    ... varies among affected individuals, it typically includes the PAFAH1B1 and YWHAE genes.Researchers are working to identify ... They have determined that the loss of the PAFAH1B1 gene is responsible for the lissencephaly seen in ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  4. Isolated lissencephaly sequence 
    ... 1 in 100,000 newborns. Mutations in the PAFAH1B1, DCX, or TUBA1A gene can cause ILS. PAFAH1B1 gene mutations are responsible for over half of ... microtubules. The proteins produced from the DCX and PAFAH1B1 genes promote neuronal migration by interacting with microtubules. ...
    https://medlineplus.gov/.../isolated-lissencephaly-sequence - Genetics
  5. Chromosome 17 
    ... to the loss of multiple genes, particularly the PAFAH1B1 and the YWHAE genes. Though the size of ... the MDS critical region. The loss of the PAFAH1B1 gene causes lissencephaly. Lissencephaly is associated with severe ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics