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1. SPTA1 Gene - GeneCards | SPTA1 Protein | SPTA1 …
genecards.org
Link: https://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1
Description: webJan 3, 2024 · SPTA1 (Spectrin Alpha, Erythrocytic 1) is a Protein Coding gene. Diseases associated with SPTA1 include Elliptocytosis 2 and Pyropoikilocytosis, Hereditary . Among its related pathways are …
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2. The Spectrum of SPTA1 -Associated Hereditary Spherocytosis
nih.gov
Link: https://pubmed.ncbi.nlm.nih.gov/31333484/
Description: webJul 3, 2019 · Comprehensive genetic and phenotypic evaluation is critical to provide accurate diagnosis in patients with SPTA1 -associated HS and guide toward appropriate … Author: Satheesh Chonat, Mary Risinger, Haripriya Sakthivel, Omar Niss, Omar Niss, Jennifer A. Rothman, Loan... Publish Year: 2019
Author: Satheesh Chonat, Mary Risinger, Haripriya Sakthivel, Omar Niss, Omar Niss, Jennifer A. Rothman, Loan...Publish Year: 2019 -
3. Spectrin, alpha 1 - Wikipedia
wikipedia.org
Link: https://en.wikipedia.org/wiki/Spectrin,_alpha_1
Description: Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene. Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of or…
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4. The Spectrum of SPTA1-Associated Hereditary Spherocytosis
frontiersin.org
Link: https://www.frontiersin.org/journals/physiology/articles/10.3389/fphys.2019.00815/full
Description: webSevere recessive HS is most commonly due to biallelic SPTA1 mutations. α-spectrin is produced in excess in normal erythroid cells, therefore SPTA1 -associated HS ensues …
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5. SPTA1 spectrin alpha, erythrocytic 1 [ (human)] - National Center …
nih.gov
Link: https://www.ncbi.nlm.nih.gov/gene/6708
Description: webA novel SPTA1 mutation (H54P) was identified in a case of hereditary elliptocytosis. The authors show that SUB1-mediated processing of MSP1 is important for parasite viability, …
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6. SPTA1 spectrin alpha, erythrocytic 1 [ Homo sapiens (human) ]
nih.gov
Link: https://www.ncbi.nlm.nih.gov/gene?Cmd=DetailsSearch&Term=6708
Description: webNov 23, 2023 · This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of …
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7. SPTA1 - My Cancer Genome
mycancergenome.org
Link: https://www.mycancergenome.org/content/gene/SPTA1/
Description: webSpectrin, alpha, erythrocytic 1 (SPTA1) is a gene that encodes an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton.
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8. Entry - *182860 - SPECTRIN, ALPHA, ERYTHROCYTIC 1; …
omim.org
Link: https://www.omim.org/entry/182860
Description: webThey found that an SPTA1 fragment containing the site of head-to-head interaction with the beta-chain bound more weakly than the corresponding SPTAN1 fragment, and they …
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9. SPTA1 spectrin alpha, erythrocytic 1 - NIH Genetic Testing …
nih.gov
Link: https://www.ncbi.nlm.nih.gov/gtr/genes/6708/
Description: webMar 1, 2024 · SPTA1. spectrin alpha, erythrocytic 1. Gene ID: 6708, updated on 1-Mar-2024. Gene type: protein coding. Also known as: EL2; HPP; HS3; SPH3; SPTA. See all …
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10. Identification of new mutations in patients with hereditary
nature.com
Link: https://www.nature.com/articles/s10038-020-0724-z
Description: webJan 24, 2020 · Abstract. Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia characterized by the presence of spherical-shaped erythrocytes on the …