Membrane-bound transcription factor peptidase, site 1 [Homo sapiens]

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MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes. [GeneReviews(®). 1993]
MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes.
Wang H, Wierenga A, Prabhu S, Wierenga K. GeneReviews(®). 1993-2024. 2023 Nov 30
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. [Am J Med Genet A. 2020]
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
Carvalho DR, Speck-Martins CE, Brum JM, Ferreira CR, Sobreira NLM. Am J Med Genet A. 2020 Jul; 182(7):1796-1800. Epub 2020 May 18.
Site-1 protease function is essential for the generation of antibody secreting cells and reprogramming for secretory activity. [Sci Rep. 2018]
Site-1 protease function is essential for the generation of antibody secreting cells and reprogramming for secretory activity.
Al-Maskari M, Care MA, Robinson E, Cocco M, Tooze RM, Doody GM. Sci Rep. 2018 Sep 25; 8(1):14338. Epub 2018 Sep 25.

RefSeq genomic sequence
See the genomic reference sequence for the MBTPS1 gene (NG_033017.1).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the MBTPS1 gene.

Nucleotide
Nucleotide sequence from coding region
PubMed
PubMed articles cited by protein sequence record
Taxonomy
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Nucleotide NIH cDNA clone
BioSystems
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Encoding mRNA
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Gene
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Order cDNA clone
PubMed (Weighted)
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Related Structures (List)
List of related structures

Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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Protein