Gene: [18q121/PALB] prealbumin, thyroxine-binding (transthyretin); familial amyloidotic polyneuropathy (FAP I/II/III/X); hyperthyroxinemia, dysprealbunemic; [TBPA TTR FAP ]

COM

The MIM Catalogue describes marker PALB as an independent gene locus, under the own number 104800 (amyloidosis I, types Andrade and Portuguese)."

GEN

The gene length is 7 kb. Exons: 4.

HET

Different types of familial amyloidotic polyneuropathy are described: amyloidosis II (types Indiana and Kavina), amyloidosis III (cardiac type Denmark), and amyloidosis X (type Swedish). In MIM, all these secondary markers are gathered in MIM:176300."

REF

POL,POG "Akbari &: Clin Endocrinol, 33, N2, 155-160, 1990
HIS,PAT "Benson MD: Lancet, 1, N8648, 1203, 1989
HIS,PAT "Cornwell &: Immunology, 44, 447-452, 1981
HIS,PAT "Costa &: PNAS, 75, 4499-4503, 1978
MUT,CAG "Furuya &: J Clin Invest, 80, 1706-1711, 1987
FUN,PAT "Herbert &: Neurology, 36, 900-911, 1986
MUT,CAG "Ide &: Hum Genet, 73, 281-285, 1986
MUT "Jacobson DR &: AJHG, 47, N1, 127-136, 1990
LOC,CYG,MOL "Jinno &: Jpn J Hum Genet, 31, 243-248, 1986
PEP,SEQ "Kanda Y &: JBC, 249, 6796-6805, 1974
FUN,PAT "Lalloz &: J Clin Endocrinol Metab, 64, 346-352, 1987
CLO,SEQ "Mita S &: BBRC, 124, N2, 558-564, 1984
FUN,PAT "Moses &: New Engl J Med, 306, 966-969, 1982
MUT,CAG "Nakazato M &: BBRC, 123, 921-928, 1984
MUT,CAG "Pras M &: PNAS, 80, 539-542, 1983
GEN,SEQ,MAP "Sasaki H &: Gene, 37, 191-197, 1985
LOC,CYG,MOL "Sparkes RS &: Hum Genet, 75, 151-154, 1987
PEP,MOP,EVO "Sundelin &: JBC, 260, N10, 6481-6487, 1985
GEN,SEQ,MAP "Tsuzuki T &: JBC, 260, N22, 12224-12227, 1985
MUT,CAG "Wada &: BBA, 873, 316-319, 1986
PND,MGC "Wallace MR &: J Clin Invest, 81, 189-193, 1988
MUT,CAG "Wallace MR &: AJHG, 25, 335-341, 1986a
MUT,CAG "Wallace MR &: J Clin Invest, 78, 6-12, 1986b
LOC,CYG,MOL "Wallace MR &: BBRC, 129, 753-758, 1985a
CLO,SEQ "Wallace MR &: Clin Res, 33, 592A, 1985b
CLO,LOC,MUT "Whitehead &: Mol Biol Med, 2, 411-423, 1984
MUT,CAG "Yoshioka K &: Hum Genet, 182, N1, 9-13, 1989
POL,PRO "Yoshioka K &: NAR, 14, 3147, 1986

SWI

SWISSPROT: P02766

KEY

hem, serp, trp, horm, neu

CLA

coding, basic

LOC

18 q12.1

MIM

MIM: 176300

SYN

TBPA TTR FAP

Ссылки: