Reference for BBS7. Search for BBS7

AI searches containing BBS7

BBS7

BBS7

Protein-coding gene in the species Homo sapiens

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene. Mutations in this gene are associated with the Bardet–Biedl syndrome.

BBS7

BBSome

Protein complex involved in cilium biogenesis

cell division. The discovery that BBS7, and other BBS proteins, like BBS4, enter the nucleus and, in the case of BBS7, interact with ring finger protein

BBSome

Bardet–Biedl syndrome

Ciliopathic recessive genetic disorder

identified. Genes involved include: BBsome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12, CCDC28B, CEP290, TMEM67, MKS1, MKKS

Bardet–Biedl syndrome

Bardet–Biedl_syndrome

Vaginal atresia

Abnormal closure or absence of the vagina

BBS are listed below: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12, MKS1 (BBS13), CEP290 (BBS14)

Vaginal atresia

Vaginal_atresia

Agyneta simplicitarsis

Species of spider

identifiers Agyneta simplicitarsis Wikidata: Q18612255 Araneae: 1299 CoL: BBS7 GBIF: 7406286 iNaturalist: 784265 NCBI: 1871923 Open Tree of Life: 3564500

Agyneta simplicitarsis

Agyneta_simplicitarsis

List of human protein-coding genes 1

HGNC:967; Q9BXC9 1447 BBS4 HGNC:969; Q96RK4 1448 BBS5 HGNC:970; Q8N3I7 1449 BBS7 HGNC:18758; Q8IWZ6 1450 BBS9 HGNC:30000; Q3SYG4 1451 BBS10 HGNC:26291; Q8TAM1

List of human protein-coding genes 1

List_of_human_protein-coding_genes_1

Ciliopathy

Genetic disease resulting in abnormal formation or function of cilia

IFT144, WDR35 Bardet–Biedl syndrome 209900 ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS, MKS1, MKS3, SDCCAG8, TTC8, TRIM32, WDPCP Ellis–van

Ciliopathy

Q-Bus

Computer bus

simplifies this design by providing a specific signal (originally called BBS7, Bus Bank Select 7 but later generalized to be called BBSIO, Bus Bank Select

Q-Bus

Coiled coil

Structural motif in proteins

interaction has been observed to drive the oligomerization of the BBS2 and BBS7 subunits of the BBSome. Because coiled-coils generally interact with other

Coiled coil

Coiled_coil

BBS1

Protein

N (Feb 2003). "Identification of a novel Bardet–Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am J Hum Genet. 72

BBS1

TTC8

Protein-coding gene in the species Homo sapiens

PMC 139241. PMID 12477932. Bin J, Madhavan J, Ferrini W, et al. (2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl

TTC8

List of OMIM disorder codes

BBS5 Bardet–Biedl syndrome 6; 209900; MKKS Bardet–Biedl syndrome 7; 209900; BBS7 Bardet–Biedl syndrome 8; 209900; TTC8 Bardet–Biedl syndrome 9; 209900; PTHB1

List of OMIM disorder codes

List_of_OMIM_disorder_codes

BBS2

Protein-coding gene in the species Homo sapiens

et al. (2003). "Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2". Am. J. Hum. Genet.

BBS2