STEM CELL FACTOR HUMAN

General description

SCF (stem cell factor) is a hematopoietic cytokine that exists in both soluble and transmembrane forms, which arise due to alternative splicing. Both these forms are functionally active. This gene is localized to human chromosome 12q22-12q24. Endothelial cells and fibroblasts constitutively produce both transmembrane and soluble forms of SCF. It is also produced by keratinocytes in normal skin, and epithelial cells in the gut, and thymus. Recombinant human SCF is an 18.4 kDa polypeptide containing 165 amino acid residues, which corresponds to the sequence of the secreted soluble form of SCF.

Biochem/physiol Actions

SCF (stem cell factor) exerts its activity by signaling through the c-Kit receptor. They participate in hematopoiesis, and development of mast cells and melanocytes. Mutations in either of these proteins result in various phenotypic disorders, such as varying degrees of macrocytic anemia, suppressed numbers of tissue mast cells, reduced fertility, and decreased pigmentation. Linkage analysis along with whole-exome sequencing, c.286_303delinsT (p.Ser96Ter), shows a heterozygous truncating mutation in this gene linked with congenital and stable non-syndromic unilateral and asymmetric hearing loss. rs4590952 polymorphism in this gene is linked with disruption of p53 function through increase in p53-dependent SCF expression, which results in increased susceptibility to testicular cancer.

Sequence

MEGICRNRVT NNVKDVTKLV ANLPKDYMIT LKYVPGMDVL PSHCWISEMV VQLSDSLTDL LDKFSNISEG LSNYSIIDKL VNIVDDLVEC VKENSSKDLK KSFKSPEPRL FTPEEFFRIF NRSIDAFKDF VVASETSDCV VSSTLSPEKD SRVSVTKPFM LPPVA

Physical form

Lyophilized from 10 mM Acetic Acid.

Reconstitution

Centrifuge the vial prior to opening. Reconstitute in water to a concentration of 0.1-1.0 mg/ml. Do not vortex. This solution can be stored at 2-8°C for up to 1 week. For extended storage, it is recommended to further dilute in a buffer containing a stabilizer (example 5% Trehalose) and store in working aliquots at -20°C to -80°C.