MAMLD1
Reactivity: Human
WB, ELISA
Host: Rabbit
Polyclonal
unconjugated
Application Notes
Optimal working dilution should be determined by the investigator.
Restrictions
For Research Use only
Reconstitution
Add 100 μL of distilled water to a final concentration of 1 mg/mL.
Handling Advice
Avoid repeated freezing and thawing.
Storage
4 °C/-20 °C
Storage Comment
Store lyophilized at 2-8 °C or at -20 °C long term. After reconstitution store the antibody undiluted at 2-8 °C for up to one month or in aliquots at -20 °C long term.
Mastermind-like domain-containing protein 1 or CXorf6 transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ. MAMLD1 is expressed in fetal brain, fetal ovary, fetal testis, adult brain, ovary, skin, testis, uterus and highly expressed in skeletal muscle. Defects in MAMLD1 are a cause of X-linked hypospadias type 2 (HYSP2). Hypospadias is a common malformation in which the urethra opens on the ventral side of the penis. It is considered a complex disorder with both genetic and environmental factors involved in the pathogenesis. Hypospadias can occur alone on an apparently multifactorial basis or as part of syndromes.Mastermind-like domain-containing protein 1Synonyms: CXorf6, F18, Mastermind-like domain-containing protein 1, Protein CG1