Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene. [5]
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Mutations in this gene are associated with the Bardet–Biedl syndrome. [5]
Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene. [5]
Mutations in this gene are associated with the Bardet–Biedl syndrome. [5]
Pericentriolar material 1, also known as PCM1, is a protein which in humans is encoded by the PCM1 gene.
MAS-related GPR, member F, also known as MRGPRF, is a human gene.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.
Bardet–Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene.
ADP-ribosylation factor-like protein 6 is a protein that in humans is encoded by the ARL6 gene.
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.
Cullin-7 is a RING-E3 ligase protein that in humans is encoded by the CUL7 gene.
Tripartite motif-containing protein 32 is a protein that in humans is encoded by the TRIM32 gene. Since its discovery in 1995, TRIM32 has been shown to be implicated in a number of diverse biological pathways.
FRAS1-related extracellular matrix protein 1 is a protein that in humans is encoded by the FREM1 gene.
FRAS1-related extracellular matrix protein 2 is a protein that in humans is encoded by the FREM2 gene.
Kinesin-like protein KIFC3 is a protein that in humans is encoded by the KIFC3 gene.
Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene.
Coiled-coil domain-containing protein 28B is a protein that in humans is encoded by the CCDC28B gene.
Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.
Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.
Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.
Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.
Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.
Short-stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, is a protein that in humans is encoded by the SHOX2 gene.
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