STIL
Encyclopedia
SCL-interrupting locus protein is a protein
that in humans is encoded by the STIL gene
.
Homozygous mutations in the STIL gene cause primary microcephaly (small brain) in humans.
encoding a pericentriolar and centrosomal protein, cause primary
microcephaly. American Journal of Human Genetics 84:286-290.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the STIL gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Homozygous mutations in the STIL gene cause primary microcephaly (small brain) in humans.
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.