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The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway.
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Human Polyclonal RIN2 Primary Antibody for ICC, IF - ABIN4350557
Sandri, Caccavari, Valdembri, Camillo, Veltel, Santambrogio, Lanzetti, Bussolino, Ivaska, Serini: The R-Ras/RIN2/Rab5 complex controls endothelial cell adhesion and morphogenesis via active integrin endocytosis and Rac signaling. in Cell research 2012
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we describe a 10th patient, the first patient of Caucasian origin and the oldest reported patient so far, who harbors the previously identified homozygous RIN2 mutation c.1878dupC (p. (Ile627Hisfs*7)). Besides the hallmark features, this patient also presents problems not previously associated with RIN2 syndrome, including cervical vertebral fusion, mild hearing loss, and colonic fibrosis.
We describe the fourth family with RIN2 syndrome in two siblings with a novel homozygous mutation in the RIN2 gene and exhibiting additional clinical features that may also contribute to further delineation of the phenotypic spectrum.
These findings confirm that RIN2 defects are associated with a distinct genodermatosis and underscore the involvement of RIN2 and its associated pathways in the pathogenesis of connective tissue disorders.
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants.
ras and Rab interactor 2
, Ras and Rab interactor 2
, RAB5 interacting protein 2
, ras and Rab interactor 2-like
, RAS association (RalGDS/AF-6) domain containing protein JC265
, RAS association domain family 4
, RAS inhibitor JC265
, RAS interaction/interference protein 2
, ras interaction/interference protein 2