Gene: [04q12/KIT] protooncogene tyrosine protein kinase KIT (CD117); v-kit Hardy-Zuckerman 4 feline sarkoma virus homolog; piebald trait (piebaldism; MIM:172800); mast/stem cell growth factor receptor; mast cell leukemia (mastocytosis with associated hematologic disorder);
GEN | The gene length: 70 kb (or more); exons: 21. The longest transcript is 5,230 bp and is alternatively spliced. Its overall gene structure closely resembles that of the CSF1R gene (GEM:04q12/PDGFRA) (Vandenbark-1992)." |
REF | IDN,LOC "Barker &:
AJHG, 37, A143, 1985 COM,LOC,MAG "Buetow &: CCG, 51, (HGM10), 973, 1989 MUT,PAT "Fleischman RA: J Clin Invest, 89, 1713-1717, 1992 MUT,PAT "Fleischman RA &: PNAS, 88, 10885-10889, 1991 BIB "Froggatt P: Irish J Med Sci, 398, 86-94, 1951 LOC,CYG "Funderburk SJ, Crandall: AJHG, 26, 715-722, 1974 MUT,PAT "Furitsu T &: J Clin Invest, 92, 1736-1744, 1993 MUT,PAT "Giebel LB, Spritz RA: PNAS, 88, 8696-8699, 1991 LOC,CYG "Hoo JJ &: Hum Genet, 73, 230-231, 1986 FUN "Huizinga JD &: Nature, 373, 347-349, 1995 LOC,CYG "Lacassie Y &: AJHG, 29, 641-642, 1977 MUT,PAT "Longley BJ &: Nature Genet, 12, 312-314, 1996 IDN,LOC "Mattei &: CCG, 46, (HGM9), 657, 1987 MUT,PAT "Nagata H &: PNAS, 92, 10560-10564, 1995 FUN,PRO,SEQ,EXP,LOC,MOL "Qiu FH &: EMBO J, 7, N4, 1003-1011, 1988 MUT,PAT "Riva P &: Hum Mut, 6, 343-345, 1995 LOC,MAP "Spritz RA &: Genomics, 22, 431-436, 1994 MUT,PAT "Spritz RA &: J Invest Derm, 101, 22-25, 1993 MUT,PAT "Spritz RA &: AJHG, 50, 261-269, 1992a MUT,PAT "Spritz RA &: AJHG, 51, 1058-1065, 1992b MUT,PAT "Spritz RA &: Am J Med Genet, 44, 492-495, 1992c MUT,PAT "Spritz RA, Giebel LB: AJHG, 49, 38-38, 1991 GEN,SEQ,FAG,EVO "Vandenbark GR &: Oncogene, 7, 1259-1266, 1992 FUN,PRO,SEQ,EXP,LOC,MOL "Yarden Y &: EMBO J, 6, N11, 3341-3351, 1987 |
SWI | SWISSPROT: P10721 |
KEY | onc, mem, vir, derm, recp, git |
CLA | coding, basic |
LOC | 04 q12 |
MIM | MIM: 164920 |
EZN | ENZYME: 2.7.1.112 |
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