SCFD2 Antibody / Sec1 family domain-containing protein 2

SCFD2 (sec1 family domain containing 2), also known as STXBP1L1 (syntaxinbinding protein 1-like 1), is a 684 amino acid protein suggested to play a role in protein transport. Existing as two alternatively spliced isoforms, SCFD2 is a member of the STXBP/unc-18/SEC1 family and is encoded by a gene that maps to human chromosome 4q12. Chromosome 4 represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington�s disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease