产品名称
TSYL1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/7259
Human Swissprot No.
Q9H0U9
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9H0U9/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/22110
Mouse Swissprot No.
O88852
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/O88852
免疫原
Synthesized peptide derived from human TSYL1 AA range: 211-261
特异性
This antibody detects endogenous levels of TSYL1 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart.
细胞定位
Nucleus, nucleolus .
功能
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 to the nucleosome assembly protein (NAP) family.,tissue specificity:Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
