The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
Testis specific like protein Y encoded
Testis specific Y encoded like protein 1
Testis-specific Y-encoded-like protein 1
TSPY like 1
TSPY like protein 1
TSPY-like protein 1
Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart.
Involvement in disease
Defects in TSPYL1 are the cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT) [MIM:608800]. SIDDT is an autosomal recessive disorder. Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. Features included bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with findings such as intraabdominal testes, dysplastic testes, deficient fetal testosterone production, fusion and rugation of the gonadal sac, and partial development of the penile shaft. Female sexual development was normal. Affected infants had an unusual staccato cry, similar to the cry of a goat.
Belongs to the nucleosome assembly protein (NAP) family.