Carboxypeptidase O,羧肽酶CPO抗体 英文名称: Anti-Carboxypeptidase O antibody |
型号:null 抗体货号: HZ-14033R |
价格:请致电:010-57128832,18610462672 |
品牌: 中国/美国 产品商标: hzbscience |
Carboxypeptidase O,羧肽酶CPO抗体 产品编号HZ-14033R Function: Subcellular Location: Similarity: Gene ID: Database links: Carboxypeptidase O,羧肽酶CPO抗体Important Note: |
DISEASE:
Defects in CENPJ are the cause of microcephaly primary type 6 (MCPH6) [MIM:608393]. A disorder defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits.
Defects in CENPJ are the cause of Seckel syndrome type 4 (SCKL4) [MIM:613676].
SCKL4 is a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.
Similarity:
Belongs to the TCP10 family.
Gene ID:
55835
CENPJ,着丝粒蛋白J抗体Database links:
Entrez Gene: 55835 Human
Entrez Gene: 219103 Mouse
Omim: 609279 Human
SwissProt: Q9HC77 Human
SwissProt: Q569L8 Mouse
Unigene: 513379 Human
Unigene: 533828 Human
Unigene: 741581 Human
Unigene: 212525 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.