CRYBB1

CRYBB1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1OKI
Identifiers
Aliases	CRYBB1, CATCN3, CTRCT17, crystallin beta B1
External IDs	OMIM: 600929; MGI: 104992; HomoloGene: 1423; GeneCards: CRYBB1; OMA:CRYBB1 - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	26,618,027 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	112,417,451 bp
RNA expression pattern
	Top expressed in
	gonad; ; prefrontal cortex; ; appendix; ; right coronary artery; ; Brodmann area 9; ; spleen; ; gallbladder; ; corpus epididymis; ; right adrenal gland; ; right adrenal cortex;
	Top expressed in
	lens; ; epithelium of lens; ; conjunctival fornix; ; retinal pigment epithelium; ; ciliary body; ; iris; ; cornea; ; masseter muscle; ; neural layer of retina; ; temporal muscle;
	More reference expression data
	More reference expression data
Orthologs
	1414
	12960
	ENSG00000100122
	ENSMUSG00000029343
	P53674
	Q9WVJ5
	NM_001887
	NM_023695; NM_001312893; NM_001312894; NM_001312895
	NP_001878
	NP_001299822; NP_001299823; NP_001299824; NP_076184
	Wikidata
View/Edit Human	View/Edit Mouse

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene.^[5]^[6] Variants in CRYBB1 are associated with autosomal dominant congenital cataract. ^[7]^[8]

Template:PBB Summary

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100122 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029343 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Hulsebos TJ, Gilbert DJ, Delattre O, Smink LJ, Dunham I, Westerveld A, Thomas G, Jenkins NA, Copeland NG (Mar 1996). "Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5". Genomics. 29 (3): 712–8. doi:10.1006/geno.1995.9947. PMID 8575764.
^ "Entrez Gene: CRYBB1 crystallin, beta B1".
^ Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A (Oct 2002). "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q". Am J Hum Genet. 71 (5): 1216–21. doi:10.1086/344212. PMC 385100. PMID 12360425.
^ Siggs OM, Javadiyan S, Sharma S, Souzeau E, Lower KM, Taranath DA; et al. (2017). "Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract". Eur J Hum Genet. 25 (6): 711–718. doi:10.1038/ejhg.2017.33. PMC 5477362. PMID 28272538. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)

External links

Human CRYBB1 genome location and CRYBB1 gene details page in the UCSC Genome Browser.

References

External links

Further reading