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BBS2
Bardet–Biedl syndrome
2
protein
is a protein that in
humans
is
encoded
by the
BBS2
gene
.
This gene encodes a protein of
unknown
function
.
Mutations
in this gene have been
observed
in
patients
with
Bardet–Biedl syndrome type 2
. Bardet–Biedl
syndrome
is an
autosomal recessive disorder
characterized by
severe
pigmentary retinopathy
,
obesity
,
polydactyly
,
renal
malformation
, and
mental retardation
.