mRNA IDs | Primary Information | |
NM_001008540.1,NM_003467.2 | Gene Symbol | CXCR4 |
Protein Name | Chemokine (c-x-c motif) receptor 4 | |
Alternate Names | CD184, D2S201E, FB22, HM89, HSY3RR, LAP3, LCR1, LESTR, NPY3R, NPYR, NPYRL, NPYY3R, WHIM | |
Gene Locus | 2q21 |
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Disease name | Characteristic / Associated features | Category | inheritance type |
WHIM syndrome | Vulval condylomata acuminata; Cervical papillomatosis with cervical dysplasia; Verrucae; Myelokathexis; Bone marrow hypercellularity; Peripheral neutropenia; Hypermature neutrophils have condensed nuclei connected by long, stringy filaments and vacuolated cytoplasm; Chronic human papillomavirus infection; Recurrent upper respiratory infections; Hypogammaglobulinemia | Defects in Innate Immunity | Autosomal dominant |