steroid 21-hydroxylase isoform b [Homo sapiens]

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Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency. [J Endocrinol Invest. 2024]
Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
Zhang X, Gao Y, Lu L, Cao Y, Zhang W, Sun B, Wu X, Tong A, Chen S, Wang X, et al. J Endocrinol Invest. 2024 Apr; 47(4):833-841. Epub 2023 Oct 10.
Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease. [Eur J Endocrinol. 2023]
Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
Lundtoft C, Eriksson D, Bianchi M, Aranda-Guillén M, Landegren N, Rantapää-Dahlqvist S, Söderkvist P, Meadows JRS, DISSECT Consortium, ImmunoArray Consortium, et al. Eur J Endocrinol. 2023 Aug 2; 189(2):235-241.
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes. [Front Endocrinol (Lausanne). 2...]
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA. Front Endocrinol (Lausanne). 2023; 14:1156616. Epub 2023 May 31.

RefSeq genomic sequence
See the genomic reference sequence for the CYP21A2 gene (NG_007941.3).
RefSeq mRNA
See reference mRNA sequence for the CYP21A2 gene (NM_001128590.4).

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NP_001122062 [Domain Mapping of Disease Mut...]
NP_001122062
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

steroid 21-hydroxylase isoform b [Homo sapiens]
steroid 21-hydroxylase isoform b [Homo sapiens]
gi|323510665|ref|NP_001122062.3|

Protein
treacle protein isoform g [Homo sapiens]
treacle protein isoform g [Homo sapiens]
gi|304376301|ref|NP_001182070.1|

Protein
suppressin [Homo sapiens]
suppressin [Homo sapiens]
gi|2246694|gb|AAB62704.1|

Protein

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Protein