STIL
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SCL-interrupting locus protein is a protein that in humans is encoded by the STIL gene.[5][6]
Homozygous mutations in the STIL gene cause primary microcephaly (small brain) in humans.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000123473 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028718 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Brown L, Cheng JT, Chen Q, Siciliano MJ, Crist W, Buchanan G, Baer R (Nov 1990). "Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia". EMBO J. 9 (10): 3343–51. PMC 552072. PMID 2209547.
- ^ "Entrez Gene: STIL SCL/TAL1 interrupting locus".
Further reading
Kumar A, Girimaji SC, Duvvari MR, Blanton SH (2009): Mutations in STIL,
encoding a pericentriolar and centrosomal protein, cause primary
microcephaly. American Journal of Human Genetics 84:286-290.
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