25-hydroxyvitamin D-1-alpha-hydroxylase [Homo sapiens]

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Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries. [J Pediatr Endocrinol Metab. 2023]
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.
Aftab S, Khan SA, Malik MI, Imran A, Anjum MN, Saeed A, Qureshi AA, Cheema HA. J Pediatr Endocrinol Metab. 2023 Feb 23; 36(2):152-157. Epub 2022 Dec 19.
The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus. [Turk J Med Sci. 2022]
The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus.
Luo M, Lıu J, Yuan Y, Chen Y, Yuan G. Turk J Med Sci. 2022 Aug; 52(4):984-989. Epub 2022 Aug 10.
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease. [J Clin Endocrinol Metab. 2023]
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN, Harambat J, Rothenbuhler A, Léger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, et al. J Clin Endocrinol Metab. 2023 Mar 10; 108(4):812-826.

RefSeq genomic sequence
See the genomic reference sequence for the CYP27B1 gene (NG_007076.1).

Nucleotide
Nucleotide sequence from coding region
PubMed
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MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

F-BAR domain only protein 1 isoform b [Homo sapiens]
F-BAR domain only protein 1 isoform b [Homo sapiens]
gi|1858900838|ref|NP_001371306.1|

Protein
Homo sapiens FCH and mu domain containing endocytic adaptor 1 (FCHO1), transcrip...
Homo sapiens FCH and mu domain containing endocytic adaptor 1 (FCHO1), transcript variant 12, mRNA
gi|1858900837|ref|NM_001384377.1|

Nucleotide
F-BAR domain only protein 1 isoform c [Homo sapiens]
F-BAR domain only protein 1 isoform c [Homo sapiens]
gi|1858900836|ref|NP_001371313.1|

Protein
F-BAR domain only protein 1 isoform h [Homo sapiens]
F-BAR domain only protein 1 isoform h [Homo sapiens]
gi|1858900834|ref|NP_001371321.1|

Protein
Homo sapiens FCH and mu domain containing endocytic adaptor 1 (FCHO1), transcrip...
Homo sapiens FCH and mu domain containing endocytic adaptor 1 (FCHO1), transcript variant 1, mRNA
gi|1677501103|ref|NM_001161357.2|

Nucleotide

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Protein