QuickView for Bbs1 (gene)

Gene Symbol:

BBS1 Homo sapiens

Full name:

Bardet-Biedl syndrome 1

Synonyms:

BBS2L2, Bardet-Biedl syndrome 1 protein, BBS2-like protein 2

Genomic Location:

Chr 11: 66034695-66057660

Description:

Mutations 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.

Mutations 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

STAT_Q6 ,  TATAAA_TATA_01 ,  RFX1_02 ,  CDX2_Q5 ,  STAT5B_01 ,  ZIC2_01 ,  STAT5A_01

Cytogenetic Map:

11q13.2

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