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Merck
모든 사진(2)

문서

SAB1401732

Sigma-Aldrich

Anti-AHI1 antibody produced in rabbit

purified immunoglobulin, buffered aqueous solution

동의어(들):

AHI-1, DKFZp686J1653, FLJ14023, FLJ20069, JBTS3, ORF1

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About This Item

UNSPSC 코드:
12352203
NACRES:
NA.41

생물학적 소스

rabbit

결합

unconjugated

항체 형태

purified immunoglobulin

항체 생산 유형

primary antibodies

클론

polyclonal

형태

buffered aqueous solution

종 반응성

human, mouse

기술

western blot: 1 μg/mL

NCBI 수납 번호

UniProt 수납 번호

배송 상태

dry ice

저장 온도

−20°C

타겟 번역 후 변형

unmodified

유전자 정보

human ... AHI1(54806)

일반 설명

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq)

면역원

AHI1 (AAH94800.1, 1 a.a. ~ 609 a.a) full-length human protein.

Sequence
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREETDLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVPDCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQENEDVFVLISPTMEEY

생화학적/생리학적 작용

The AHI1 (Abelson helper integration site 1) protein is responsible for the cerebellar and cortical structure growth during embryonic development. Mutation in AHI1 (Abelson helper integration site 1) might result in schizophrenia, a mental disorder that is highly heritable. AHI1 variants cause oculomotor apraxia, leading to Joubert syndrome-related disorders. The encoded protein is associated with canonical Wnt signaling.

특징 및 장점

Evaluate our antibodies with complete peace of mind. If the antibody does not perform in your application, we will issue a full credit or replacement antibody. Learn more.

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


시험 성적서(COA)

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문서 라이브러리 방문

A cis-eQTL in AHI1 confers risk to schizophrenia in European populations.
Ren Z, et.al.
Neuroscience Letters, 632, 130-135 (2016)
Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing.
Min X
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 23, 1719-1724 (2017)
Zhimin Ren et al.
Neuroscience letters, 632, 130-135 (2016-09-03)
Schizophrenia is a devastating mental disorder, with heritability as high as 80%. Although genome-wide association studies have identified multiple promising risk variants of schizophrenia, they could only explain a small portion of the disease heritability, and other variants with low

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