Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct cells) (at protein level).
Involvement in disease:Defects in AHI1 are the cause of Joubert syndrome type 3 (JBTS3) . JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.
Function:
Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes (By similarity).
Subunit:
Part of the tectonic-like complex (also named B9complex). Interacts with MKS1 (By similarity). Interacts withNPHP1.
Subcellular Location:
Cytoplasm, cytoskeleton, cilium basal body(By similarity). Cell junction, adherens junction.
Tissue Specificity:
Highly expressed in the most primitive normalhematopoietic cells. Expressed in brain, particularly in neuronsthat give rise to the crossing axons of the corticospinal tract andsuperior cerebellar peduncles. Expressed in kidney (renalcollecting duct cells) (at protein level).
DISEASE:
Defects in AHI1 are the cause of Joubert syndrome type 3(JBTS3) [MIM:608629]. JBTS is an autosomal recessive disorderpresenting with cerebellar ataxia, oculomotor apraxia, hypotonia,neonatal breathing abnormalities and psychomotor delay.Neuroradiologically, it is characterized by cerebellar vermianhypoplasia/aplasia, thickened and reoriented superior cerebellarpeduncles, and an abnormally large interpeduncular fossa, givingthe appearance of a molar tooth on transaxial slices (molar toothsign). Additional variable features include retinal dystrophy andrenal disease. JBTS3 shows minimal extra central nervous systeminvolvement and appears not to be associated with renaldysfunction.
Similarity:
Contains 1 SH3 domain.
Contains 7 WD repeats.
SWISS:
Q8N157
Gene ID:
5966
Database links:
Entrez Gene: 5966 Human
Entrez Gene: 52906 Mouse
Entrez Gene: 308923 Rat
Omim: 608894 Human
SwissProt: Q8N157 Human
SwissProt: Q8K3E5 Mouse
SwissProt: Q6DTM3 Rat
Unigene: 386684 Human
Unigene: 253280 Mouse
Unigene: 155144 Rat
脑组织表达
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