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Genes
AHI1
Gene - AHI1
full name
Abelson helper integration site 1
synonyms
AHI-1, dJ71N10.1, JBTS3, ORF1, AHI1, ENSG00000135541
HGNC
HGNC:21575
Entrez Gene
Gene:54806
ENSEMBL
ENSG00000135541
location
chr: 6
start: 135604670
stop: 135818903
strand: -
OMIM
OMIM:608894
: AHI1
(Autosomal recessive inheritance,Heterogeneous)
OMIM:608629
: Joubert syndrome 3
transcripts
NM_001134830.1
NM_017651.4
NM_001134831.1
NM_001134832.1
pathways
Anchoring of the basal body to the plasma membrane
[NCBI:1268847]
[REACTOME:R-HSA-5620912]
[PUBMED:21816947]
[PUBMED:23747070]
[PUBMED:19575670]
[PUBMED:13978319]
[PUBMED:23348840]
[PUBMED:25047614]
[PUBMED:20819941]
[PUBMED:5661997]
[PUBMED:21422230]
[PUBMED:24469809]
[PUBMED:23530209]
[PUBMED:21725307]
[PUBMED:21680046]
[PUBMED:23351793]
[PUBMED:21427764]
[PUBMED:11676918]
[PUBMED:22653444]
Cilium Assembly
[NCBI:1268846]
[REACTOME:R-HSA-5617833]
[PUBMED:21427764]
[PUBMED:23351793]
[PUBMED:25040720]
[PUBMED:17955020]
[PUBMED:22118932]
[PUBMED:22653444]
[PUBMED:22389062]
[PUBMED:20399632]
[PUBMED:25047619]
[PUBMED:20395968]
[PUBMED:23945166]
[PUBMED:19575670]
[PUBMED:24296415]
[PUBMED:20145001]
[PUBMED:19602418]
Organelle biogenesis and maintenance
[NCBI:1268838]
[REACTOME:R-HSA-1852241]
[PUBMED:8608592]
[PUBMED:16103713]