ALMS1


ALMS1

protein
Name=Alstrom syndrome 1
caption=


width=
HGNCid=428
Symbol=ALMS1
AltSymbols=
EntrezGene=7840
OMIM=606844
RefSeq=NM_015120
UniProt=Q8TCU4
PDB=
ECnumber=
Chromosome=2
Arm=p
Band=13.1
LocusSupplementaryData=
The Jackson Laboratory in Bar Harbor, Maine, USA with the University of Southampton, UK isolated ALMS1 as the single gene responsible for Alström syndrome.

Mutations in the ALMS1 gene have been found to be causative for Alström syndrome with a total of 81 disease-causing mutations. cite journal | author=Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN |title=Alstrom syndrome (OMIM 203800): a case report and literature review. | journal=Orphanet Journal of Rare Diseases | year=2007 | volume=2 | issue=1 | pmid = 18154657 | url=http://www.ojrd.com/content/2/1/49 | doi=10.1186/1750-1172-2-49 |pages=49]

References

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