Gene: [11q2/CRYAB] crystallin, alpha B polypeptide; myopathy, desmin-related, cardioskeletal; [CRYA2 ]
COM | Quax-Jeuken-1985 mapped the CRYA2 gene to Chr 16. Wijnen-1989 and Ngo-1989 reassigned this gene to Chr 11. Iwaki-1998 showed that alpha B crystallin and heat shock 27kD protein 2 (GEM:11q2/HSPB2) genes are arranged in a head-to-head manner with an intragenic sequence of less than 1kb." |
REL | GEM:21q223/CRYAA. |
REF | CLO,SEQ,LOC "Iwaki A
&: Genomics, 45, N2, 386-394, 1997 PRO,LOC,CYG,MOL "Ngo JT &: Genomics, 5, 665-669, 1989 HIS,LIN "Quax-Jeuken &: PNAS, 82, N17, 5819-5823, 1985 MUT "Vicart P &: Nature Genet, 20, N1, 92-95, 1998 PRO,LOC,CYG,MOL "Wijnen &: CCG, 51, (HGM10), 1108, 1989 |
SWI | SWISSPROT: P02511 |
KEY | exce, eye |
CLA | coding, basic |
LOC | 11 q22.3-23.1 |
MIM | MIM: 123590 |
SYN | CRYA2 |
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