Function
The absence of Golgi proteolytic processing requirement makes this isoform constitutively active in transactivation of lipogenic gene promoters.
Biological Context
Subcellular Location: Nucleus
Tissue Specificity: Predominantly expressed in liver and adipose tissues. Also expressed in kidney, brain, white fat, and muscle
Disease Association: IFAP syndrome 2 (IFAP2) : An autosomal dominant form of IFAP syndrome, a disease characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. IFAP2 patients manifest ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic plaques, sparse to no body hair, and photophobia with punctate corneal epithelial defects, corneal pannus, and complicated cataract. Ultrastructural hair analysis shows trichorrhexis nodosa. [The disease is caused by variants affecting the gene represented in this entry] | Mucoepithelial dysplasia, hereditary (HMD) : An autosomal dominant genodermatosis mainly characterized by chronic mucosal lesions associated with keratitis, non-scarring alopecia, keratosis pilaris and perineal intertrigo. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Sterol regulatory element-binding protein 1 (SREBF1), partial Protein is a recombinant protein from Homo sapiens(Human), expressed in in vitro E.coli expression system, covering amino acids 1-490aa, with N-terminal 6xHis-tagged tag, molecular weight 54.5kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
