추천 제품
생물학적 소스
mouse
Quality Level
결합
unconjugated
항체 형태
purified immunoglobulin
항체 생산 유형
primary antibodies
클론
1G11, monoclonal
양식
buffered aqueous solution
종 반응성
human
기술
capture ELISA: suitable
western blot: 1-5 μg/mL
동형
IgG1κ
NCBI 수납 번호
UniProt 수납 번호
배송 상태
dry ice
저장 온도
−20°C
타겟 번역 후 변형
unmodified
유전자 정보
human ... SIX2(10736)
일반 설명
This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila ′sine oculis′ homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. (provided by RefSeq)
면역원
SIX2 (AAH24033, 1 a.a. ~ 291 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
MSMLPTFGFTQEQVACVCEVLQQGGNIERLGRFLWSLPACEHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNHAKLQQLWLKAHYIEAEKLRGRPLGAVGKYRVRRKFPLPRSIWDGEETSYCFKEKSRSVLREWYAHNPYPSPREKRELTEATGLTTTQVSNWFKNRRQRDRAAEAKERENNENSNSNSHNPLNGSGKSVLGSSEDEKTPSGTPDHSSSSPALLLSPPPPGLPSLHSLGHPPGPSAVPVPVPGGGGADPLQHHHGLQDSILNPMSANLVDLGS
Sequence
MSMLPTFGFTQEQVACVCEVLQQGGNIERLGRFLWSLPACEHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNHAKLQQLWLKAHYIEAEKLRGRPLGAVGKYRVRRKFPLPRSIWDGEETSYCFKEKSRSVLREWYAHNPYPSPREKRELTEATGLTTTQVSNWFKNRRQRDRAAEAKERENNENSNSNSHNPLNGSGKSVLGSSEDEKTPSGTPDHSSSSPALLLSPPPPGLPSLHSLGHPPGPSAVPVPVPGGGGADPLQHHHGLQDSILNPMSANLVDLGS
생화학적/생리학적 작용
SIX2 (SIX homeobox 2) is responsible for the regulation of cartilage growth and differentiation in endochondral skeleton. SIX2 also participates in the craniofacial skeletal muscle formation. It might prevent the abnormal drooping eyelids, by weakening the ability of levator muscle to contract. SIX2 haploinsufficiency is linked with congenital ossicle malformation. Mutation in SIX2 is found to be associated with the development of urinary tract, kidney, anterior cranial base, limb tendon and the formation of pyloric sphincter. Deletion in the gene might cause autosomal dominant frontonasal dysplasia syndrome. Mutation in the gene leads to renal hypodysplasia and also chemotherapy-resistant blastemas.
물리적 형태
Solution in phosphate buffered saline, pH 7.4
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.
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Storage Class Code
10 - Combustible liquids
Flash Point (°F)
Not applicable
Flash Point (°C)
Not applicable
가장 최신 버전 중 하나를 선택하세요:
시험 성적서(COA)
Lot/Batch Number
Robert B Hufnagel et al.
American journal of medical genetics. Part A, 170A(2), 487-491 (2015-11-20)
The frontonasal dysplasias are a group of craniofacial phenotypes characterized by hypertelorism, nasal clefting, frontal bossing, and abnormal hairline. These conditions are caused by recessive mutations in members of the aristaless gene family, resulting in abnormal cranial neural crest migration
Jing Guan et al.
Journal of human genetics, 61(11), 917-922 (2016-07-08)
The ossicles represent one of the most fundamental morphological features in evolutionary biology of the mammalians. The mobile ossicular morphology abnormalities result in the severe conductive hearing loss. Development and patterning of the middle ear malformation depend on genetic and
A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.
Hufnagel RB
American Journal of Medical Genetics, 170A(2), 487-491 (2016)
SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.
Guan J
Journal of Human Genetics, 61(11), 917-922 (2016)
Differential regulation of mouse and human nephron progenitors by the Six family of transcriptional regulators.
O'Brien LL
Development, 143(4), 595-608 (2016)
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