Specifications
Immunogen
ABCC8 (NP_000343, 611 a.a. ~ 710 a.a) partial recombinant protein with GST tag. The sequence is SEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLTGPLQSLVPSA DGDADNCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTM
Target
Alternative Names
ABCC8; ATP-binding cassette, sub-family C (CFTR/MRP), member 8; HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; TNDM2; SUR1delta2; ATP-binding cassette sub-family C member 8; sulfonylurea receptor 1; sulfonylurea receptor (hyperinsulinemia); ATP-binding ca
Product Background
Antigen Description
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene.
Pathway
ABC transporters; ABC-family proteins mediated transport; FOXA2 and FOXA3 transcription factor networks; Integration of energy metabolism
Citations
Publication ()
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