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1590 CYP21A1P

1590

CYP21A1P

cytochrome P450 family 21 subfamily A member 1, pseudogene

pseudo

Homo sapiens

基因描述

Type Description
Definition cytochrome P450 family 21 subfamily A member 1, pseudogene

研究结论

Date Results Publications
2020-07-04 11:28:00 A contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes are associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. 31229653
2014-01-11 10:33:00 The variants reveal that traditional recognition of CYP21A1P gene based on the TaqI fragment size analysis may lead to misinterpretation and interfere with the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 23313747
2011-08-06 10:37:00 Pseudogene of the CYP21A1P mutation presents diverse variants. it may be misdiagnosed by previously established methods for congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency. 21324303
2011-08-06 10:24:00 Chimeric CYP21A1P/CYP21A2 genes were present in 171 out of 508 mutated CYP21A2 alleles (33.8%). 20970527
2010-01-21 00:00:00 demonstration of diversity associated with gene copy-number variation of complement C4, CYP21 & tenascin; also offers an explanation for low prevalence of systemic lupus erythematosus but high incidence of congenital adrenal hyperplasia in Asian-Indians 19135723

名称对应

Type IDs
Synonymous CYP21A, CYP21P, P450c21A
Gene
Nucleutide sequences
Protein sequencees
Others
UniGene: Hs.654479

全选

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研究热度

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