SpletSHROOM4 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, SHROOM4 Genome Browser, SHROOM4 References SHROOM4 - Explore an overview of SHROOM4, with a histogram … SpletInvitrogen Anti-SHROOM4 Polyclonal, Catalog # PA5-139736. Tested in Immunocytochemistry (ICC/IF) applications. This antibody reacts with Human samples. Supplied as 100 µL purified antibody (0.4 µg/mL).
SHROOM4 Gene - Somatic Mutations in Cancer
SpletDefects in SHROOM4 are the cause of mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:300434]. A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis. SpletSummary. This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. bush\u0027s chicken huebner
SHROOM4 - Antibodies - The Human Protein Atlas
SpletBackground: SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital … Splet03. dec. 2024 · SHROOM4 shroom family member 4 [ (human)] Gene ID: 57477, updated on 3-Dec-2024. Summary. This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X … Splet17. maj 2024 · SHROOM4 was potentially a candidate pathogenic gene of idiopathic epilepsy without intellectual disability. The genotype-phenotype correlation and sub … handley football maxpreps