Viral Details

Viral Backbone

Human Adenovirus Type5 (dE1/E3)

Promoter

CMV

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

DMEM, 2% BSA, 2.5% Glycerol

Gene Details

Species

Human

Gene Symbol

AHI1

Gene Name

Abelson helper integration site 1

Gene ID

54806

Gene Synonyms

AHI-1; dJ71N10.1; JBTS3; ORF1

ORF Size

1830 bp

RefSeq#

BC094800

Gene Description

AHI1 is apparently required for both cerebellar and cortical development in humans. AHI1 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.

UniGene ID

Hs.386684

HGNC ID

HGNC:21575