Cytoplasmic dynein 1 heavy chain 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''DYNC1H1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Interactions
DYNC1H1 has been shown to
interact
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with
PAFAH1B1 and
CDC5L
Cell division cycle 5-like protein is a protein that in humans is encoded by the ''CDC5L'' gene.
Function
The protein encoded by this gene shares a significant similarity with ''Schizosaccharomyces pombe'' cdc5 gene product, which is a cell c ...
.
Clinical relevance
Mutations in this gene have been shown to cause dominant axonal
Charcot-Marie-Tooth disease
as well as
spinal muscular atrophy with lower extremity predominance 1 (SMA-LED1).
References
Further reading
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External links
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