Species: Hu
Applications: ICC/IF, IHC
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt, Bv, Ca
Applications: ELISA, ICC/IF
Host: Goat Polyclonal
Species: Hu
Applications: IP
Host: Rabbit Polyclonal
Species: Hu
Applications: AC
Species: Hu
Applications: AC
Description
Mutations in the ALMS1 gene are the cause of Alstrom syndrome, a rare autosomal recessive disease characterized by type 2 diabetes mellitus, obesity, cardiomyopathy, and neurosensory defects such as cone-rod retinal dystrophy, and hearing loss. In the cell, ALMS1 localizes to basal bodies of ciliated cells and centrosomes and is thus a member of proteins associated with genetic ciliopathies. ALMS1 is also known as KIAA0328 and ALSS.
Bioinformatics
Entrez |
Mouse Rat Human |
Uniprot |
Human Human Human |
Product By Gene ID |
7840 |
Alternate Names |
- Alstrom syndrome 1
- Alstrom syndrome protein 1
- DKFZp686A118
- DKFZp686D1828
- KIAA0328ALSS
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