Gene: [18q23/CYB5] cytochrome b-5 (MIM:123950); methemoglobinemia, type IV, with male pseudohermaphrodism (cytochrome b-5 deficiency);


EXP

Erythocyte (97aa) and liver (133aa) isoforms are produced by alternative splicing."

REL

GEM:0X^/CYB5P1; GEM:00.0/CYB5P2; GEM:14q3/CYB5P3; GEM:20p112/CYB5P4; GEM:00.0/CYB5P5."

REF

MUT "Giordano SJ &: Hum Genet, 93, 568-570, 1994
LOC "Giordano SJ &: Hum Genet, 92, 615-618, 1993
CLO,SEQ,GEN "Li XR &: BBRC, 209, 894-900, 1995
CLO,LOC,FAG "Shephard EA &: Genomics, 11, 302-308, 1991
CLO,SEQ "Yoo M, Steggles AW: BBRC, 156, 576-580, 1988

SWI

 SWISSPROT: P00167

KEY

hem, mtbd

CLA

coding, basic

LOC

18 q23

MIM

 MIM: 250790

EZN

?