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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Twist-related protein 2
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| http://www.biopax.org/relea... |
TWST2_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Class A basic helix-loop-helix protein 39,
Dermis-expressed protein 1,
Dermo-1,
bHLHa39
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| http://www.biopax.org/relea... |
FUNCTION: Binds to the E-box consensus sequence 5'-CANNTG-3' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors. SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3/E12. Also interacts with MEF2C (By similarity). SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly nuclear during embryonic development. Cytoplasmic in adult tissues. TISSUE SPECIFICITY: In the embryo, highly expressed in chondrogenic cells. In embryonic skin, expressed in the undifferentiated mesenchymal layer beneath the epidermis which later develops into the dermis. Expressed in early myeloid cells but not in lymphoid cells in the liver. Expression also detected in the secretory ependymal epithelium of the choroid plexus primordium. In the adult, expressed in secreting glandular tissues and tubules. DISEASE: Defects in TWIST2 are the cause of Setleis syndrome (SETLEISS) [MIM:227260]. A focal facial dermal dysplasia characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch. SIMILARITY: Contains 1 basic helix-loop-helix (bHLH) domain. GENE SYNONYMS: BHLHA39 DERMO1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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