Gene: [08p112/ANK1] ankyrin 1, erythrocytic (ankyrin R); spherocytosis, type II; [SPH2 ]
FUN | Ankyrin plays an important role in the stabilization of cytoskeleton of red blood cells, binding spectrin subunits (GEM:01q24/SPTA1; GEM:14q24/SPTB) as well as erythtrocyte membrane proteins, both transmembrane (GEM:17q21/SLC4A1) and integral (e.g. glycophorins) ones (Kennedy-1991)." |
FAG | A locus for brain ankyrin is mapped in Chr 4q2 (GEM:04q2/ANK2) and ankyrin 3 is mapped to Chr 10q21 (GEM:10q21/ANK3)." |
HET | At least two other types of hereditary spherocytosis are mapped. One of them (which is referred to, according to different classifications, as SPH1 or SPH2) is determined by a defect in the N-terminal region of spectrin beta subunit (GEM:14q24/SPTB); and the other (non-hemolytic spherocytosis) is determined by alpha-enolase deficiency (GEM:01p36/ENO1)." |
REF | PAT,LOC,CYG "Bass EB
&: Ann Int Med, 99, 192-193, 1983 REV,PAT,LIN,MEB "Davies, Lux: Trends Genet, 5, 222-227, 1989 MUT "Eber SW &: Nature Genet, 13, 214-218, 1996 LOC,LIN,PAT "Forget &: CCG, 51, (HGM10), 999, 1989 MUT "Jarolim P &: J Clin Invest, 95, 941-947, 1995 MEB,FUN "Kennedy SP &: J Cell Biol, 115, N1, 267-277, 1991 PAT,LOC,CYG "Kimberling WJ &: AJHG, 27, 586-594, 1975 PAT,LOC,CYG "Kitatani M &: Hum Genet, 78, 94-95, 1988 CLO,SEQ,STR "Lambert S &: PNAS, 87, 1730-1734, 1990 CLO,EXP "Lux &: Blood, 72, (Suppl 1), 38A, 1988 CLO,SEQ,STR "Lux SE &: Nature, 344, 36-42, 1990a CLO,SEQ,GEN,LOC "Lux SE &: Nature, 345, 736-739, 1990b MUT "Okamoto N &: Am J Med Genet, 58, 225-229, 1995 CLO,SEQ,GEN,LOC "Tse WT &: Clin Res, 38, 266A, 1990 EAG,LIN,MOU,HUM "White RA &: PNAS, 87, N8, 3117-3221, 1990 |
SWI | SWISSPROT: P16157 |
KEY | hem, cysk, mem |
CLA | coding, basic |
LOC | 08 p11.2 |
MIM | MIM: 182900 |
SYN | SPH2 |
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