Gene: [0Xp112/WAS] Wiskott-Aldrich syndrome protein; sialophorin expression factor? (antigen CD43 expression?); immunodeficiency 2 (Wiskott-Aldrich syndrome); eczema-thrombocytopenia-immunodeficiency syndrome; thrombocytopenia 1 (X-linked; MIM:313900); [IMD2 THC ]
PAT | Wiskott-Aldrich syndrome is an X-linked disorder characterized by thrombocytopenia, eczema, impaired immunity, and predisposition to lymphoma and leukemia. The size of platelets and lymphocytes is reduced in WAS, and scanning electron microscopy of T lymphocytes shows a relatively smooth surface with decrease in the number and size of microvilli, suggesting a defect in cytoskeletal architecture." |
MOP | The WAS gene encodes a 502-amino acid proline-rich protein. |
CAG | Villa-1995 and Zhu-1995 demonstrated that X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WAS gene." |
FAG | See GEM:16p112/SPN. |
REF | MUT,ASS "de Saint Basile G &: J Pediatr, 129, 56-62, 1996 LIN,LOC "de Saint Basile G &: Lancet, 2, 1319-1321, 1989 MUT "Derry JMJ &: Genomics, 29, 471-477, 1995a MUT "Derry JMJ &: Hum Mol Genet, 4, 1127-1135, 1995b CLO,SEQ,GEN,LOC "Derry JMJ &: Cell, 78, 635-644, 1994 MUT "Greer WL &: Hum Genet, 98, 685-690, 1996 LIN,LOC "Greer WL &: Hum Genet, 88, 453-456, 1992 LIN,LOC "Greer WL &: Genomics, 6, 568-571, 1990 LIN,LOC "Greer WL &: Hum Genet, 83, 227-230, 1989 EXP,FUN "Kolluri R &: PNAS, 93, 5615-5618, 1996 MUT "Kolluri R &: Hum Mol Genet, 4, 1119-1126, 1995 MUT "Kwan S-P &: PNAS, 92, 4706-4710, 1995 LIN,LOC "Kwan S-P &: Genomics, 10, 29-33, 1991 LIN,LOC "Kwan S-P &: CCG, 51, (HGM10), 1027, 1989 PAT,PHE "Puck &: Blood, 75, N12, 2369-2374, 1990 MUT "Schindelhauer D &: Hum Genet, 98, 68-76, 1996 PAT,MOL "Shelley CS &: PNAS, 86, N8, 2819-2823, 1989 EXP,FUN "Stewart DM &: J Clin Invest, 97, 2627-2634, 1996 EXP,FUN "Symons M &: Cell, 84, 723-734, 1996 MUT "Villa A &: Nature Genet, 9, 414-417, 1995 EXP,FUN "Wengler GS &: Blood, 85, 2471-2477, 1995a MUT "Wengler GS &: Blood, 86, 3648-3654, 1995b MUT "Zhu Q &: Blood, 86, 3797-3804, 1995 |
SWI | SWISSPROT: P42768 |
KEY | imm, hem, clot |
CLA | coding, basic |
LOC | 0X p11.23-.22 |
MIM | MIM: 301000 |
SYN | IMD2 THC |
