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AHI1 Products

Antibodies
AHI1 Antibody - BSA Free
AHI1 Antibody - BSA Free
NBP2-55373
Species: Hu
Applications: ICC/IF
Host: Rabbit Polyclonal
Formulation Catalog # Availability Price  
AHI1 Antibody - BSA Free
AHI1 Antibody - BSA Free
NBP2-14274
Species: Hu
Applications: IHC
Host: Rabbit Polyclonal
Formulation Catalog # Availability Price  
Proteins
AHI1 Recombinant Protein Anti ...
AHI1 Recombinant Protein Antigen
NBP2-14274PEP
Species: Hu
Applications: AC
AHI1 Recombinant Protein Anti ...
AHI1 Recombinant Protein Antigen
NBP2-55373PEP
Species: Hu
Applications: AC

Description

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]

Bioinformatics

Entrez Human
Product By Gene ID 54806
Alternate Names
  • Abelson helper integration site 1 protein homolog
  • Abelson helper integration site 1
  • Abelson helper integration site
  • AHI-1
  • contatins SH3 and WD40 domains
  • dJ71N10.1
  • DKFZp686J1653
  • FLJ14023
  • FLJ20069
  • JBTS3
  • jouberin
  • ORF1