The solute carrier family 26 member 4 (SLC26A4) gene encodes for the protein, pendrin. This protein is localized in the thyroid and inner ear. The SLC26A4 gene is located on the human chromosome at 7q22.3.
면역원
Synthetic peptide directed towards the middle region of human SLC26A4
애플리케이션
Anti-SLC26A4 antibody produced in rabbit has been used in immunofluorescent staining.[1]
생화학적/생리학적 작용
Pendrin is a transmembrane protein and is involved in the exchange of anions. Mutations in the SLC26A4 gene are associated with Pendred syndrome which is an autosomal recessive disorder, identified by goiter and sensorineural hearing loss. SLC26A4 gene mutations lead to an enlarged vestibular aqueduct (EVA), which is an inner ear malformation with non-syndromic deafness.
서열
Synthetic peptide located within the following region: ELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFL
물리적 형태
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
면책조항
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Clinical and experimental otorhinolaryngology, 12(1), 50-57 (2018-08-09)
To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling
International journal of pediatric otorhinolaryngology, 134, 110018-110018 (2020-04-07)
Sensorineural hearing loss is a heterogeneous disease caused by mutations in many genes. However, in the presence of enlarged vestibular aqueduct, it is frequently associated with mutations in the solute carrier family 26 member 4 (SLC26A4), a gene causative of
Journal of human genetics, 54(5), 266-270 (2009-03-17)
Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene encoding pendrin, a transmembrane exchanger of Cl(-), I(-) and HCO(3)(-), which is expressed in the thyroid and
Chronic kidney disease affects 10% of the population with notable differences in ethnic and sex-related susceptibility to kidney injury and disease. Kidney dysfunction leads to significant morbidity and mortality and chronic disease in other organ systems. A mouse-organ-centered understanding underlies
질문
후기
★★★★★ 평점 값 없음
활성 필터
자사의 과학자팀은 생명 과학, 재료 과학, 화학 합성, 크로마토그래피, 분석 및 기타 많은 영역을 포함한 모든 과학 분야에 경험이 있습니다..