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FLASH GENE

Symbol

CRYBB1

contributors: mct - updated : 09-04-2019

HGNC name	crystallin, beta B1
HGNC id	2397

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARCC2 congenital cataract, autosomal recessive 2 CCA2 cataract, congenital, cerulean, type 2
Location	22q11.22      Physical location : 26.995.361 - 27.013.991

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	member of a gene cluster with beta-A4,beta-B2 and beta-B3
STRUCTURE	18.00 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye uvea ciliary body       eye lens       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

eye, lens

PROTEIN

PHYSICAL PROPERTIES		basic
STRUCTURE

motifs/domains	an ABAB pattern, structural motif with characteristic of the beta-gamma crystallin superfamily
	two domains beta-structure folded into four very similar greek key motifs, linked by a connecting peptide and N- and C-terminal extensions

mono polymer

homomer , heteromer , dimer , complex

HOMOLOGY

interspecies	ortholog to murine Crybb1
	homolog to C.elegans ZC53.6

Homologene

FAMILY	beta-gamma crystallin superfamily
	beta basic group member

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION

intracellular

basic FUNCTION	contributing to the refractive index and transparency of lens
	lens crystallin genes, CRYBA4 and CRYBB1, can be simultaneously transcribed from adjacent bidirectional promoters and do not show nuclear accumulation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

dominant structural component of the eye lens

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CCA2 , ARCC2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS