MyBioSource.com's SLC29A3 Antibody (N-term) is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: ELISA, Immunohistochemistry, and Western Blot. The SLC29A3 Antibody (N-term) was generated using ENT3, HJCD, and SLC29A3 as the antigen and it reacts with Human.
Description
This gene encodes a nucleoside transporter. The encoded
protein plays a role in cellular uptake of nucleosides,
nucleobases, and their related analogs. Mutations in this gene have
been associated with H syndrome, which is characterized by
cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly,
heart anomalies, and hypogonadism. A related disorder, PHID
(pigmented hypertrichosis with insulin-dependent diabetes
mellitus), has also been associated with mutations at this locus.
Alternatively spliced transcript variants have been described