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DYNC1H1
Cytoplasmic dynein
1
heavy chain
1
is a
protein
that in
humans
is
encoded
by the
DYNC1H1
gene
.
Interactions
DYNC1H1 has been
shown
to
interact
with
PAFAH1B1
and
CDC5L
.
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
.