Immunogen
Synthesized peptide derived from human TSYL1 AA range: 211-261
Specificity
This antibody detects endogenous levels of TSYL1 at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1：500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009],
Function
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.,similarity:Belongs
Human protein sequence Database
Q9H0U9
Mouse protein sequence database
O88852
Rat protein sequence database
Cellular localization
Nucleus, nucleolus .
Tissue expression
Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart.
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