| Symbol
| CR1
| contributors: mct - updated : 28-05-2014
|
| HGNC name
| complement component (3b/4b) receptor 1, including Knops blood group system
|
| HGNC id
| 2334
|
| corresponding disease(s)
|
KPN
|
| 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
|
| | | |
|
| 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 |