Gene: [01p36/ENO1] enolase 1 (phosphopyruvate hydratase, alpha); spherocytosis, autosomal dominant;


GEN

The gene length is 18 kb; exons: 12.

FUN

[1] Systematic name: 2-phospho-D-glycerate hydro-lyase.
[2] Reaction catalyzed: 2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O."

TIS

Unlike the other isoforms (see GEM:12p13/ENO2 and GEM:17p1/ENO3), alpha enolase is found in many tissues."

MOP

The holoenzyme is a homodimer. MM of the alpha subunit is 44 kD.

FAG

See GEM:17p1/ENO3:FAG.

PSG

GEM:01^/ENO1P.

REL

GEM:00.0/ENO1L1.

REF

LOC,PRO "Carrit B &: Ann Hum Genet, 46, N4, 329-335, 1982
LOC,PRO "Cook PJ &: CCG, 25 (HGM5), N1-4, 9-20, 1979
MAP "D'Ancona GG &: CCG, 18, 327-332, 1977
GEN,SEQ,STR "Giallongo A &: Eur J Biochem, 190, N3, 567-573, 1990
SEQ,MOP,EXP "Giallongo A &: PNAS, 83, N18, 6741-6745, 1986
IDN,FUN,ENE,PEP "Holt A, Wold F: JBC, 236, 3227-?, 1961
MAP,EAG "Lalley PA &: PNAS, 75, 2382-2386, 1978
IDN,FUN,ENE,PEP "Westhead EW, McLain G: JBC, 239, 2464-?, 1964

KEY

hem, glyc

CLA

coding, basic

LOC

01 pt-36.13

MIM

MIM: 172430

EZN

ENZYME: 4.2.1.11

鸯铗痂蝈 蜞赕:

  • Gene: [08p112/ANK1] ankyrin 1, erythrocytic (ankyrin R); spherocytosis, type II; [SPH2 ]
  • 屙铍噻-HUGEN