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MGP000289

Record overview

MGPD IDMGP000289
Gene ID582
SpeciesHomo sapiens (Human)
Gene NameBardet-Biedl syndrome 1
Gene Symbol BBS1
SynonymsBBS2L2;
Alternate namesBardet-Biedl syndrome 1 protein; BBS2-like protein 2;
Chromosome11
Map Location11q13
SummaryMutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for BBS1

Proteins

Bardet-Biedl syndrome 1 protein
Refseq ID:NP_078925
Protein GI:28395045
UniProt ID:Q8NFJ9
mRNA ID:NM_024649
Length:593
RefSeq Status:
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAATFLMEQHEPR
TPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVI
TTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHK
VLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIK
ILKRTAVFVEGGSEVGPPPAQAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLSTTAREPLKLHAVVQGLGPTFK
LTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGISDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA
 
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