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FLASH GENE

Symbol

CR1

contributors: mct - updated : 28-05-2014

HGNC name	complement component (3b/4b) receptor 1, including Knops blood group system
HGNC id	2334

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

KPN

related resource

Blood Group Antigen Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function patients with systemic lupus erythematosus (SLE) have relative deficiencies of the C3b/C4b receptor (CR1) on erythrocytes (E)

Susceptibility

to late-onset Alzheimer's disease (LOAD) (pMID: 24794147) to cerebral amyloid angiopathy (CAA) with intracerebral hemorrhage (ICH) in elderly individuals

Variant & Polymorphism other	rs3818361 single nucleotide polymorphism in CR1 is associated with increased risk of Alzheimer disease (AD)
	CR1 variant rs6656401 influences risk and recurrence of CAA-ICH, as well as the severity of vascular amyloid deposition

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Cr1-deficient (Cr1KO) mice develop normal B1 and B2 immature and mature B cell subsets and have normal levels of naive serum Abs but altered levels of natural