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:
- Gene: [20p112/CST3] cystatin C (amyloidosis VI, iceland type); hereditary cerebral hemorrhage with amyloidosis, Icelandic (HCHWAI); [HCHWAI CAA ]
- Gene: [11q233/APOA1] apolipoprotein A-I; amyloidosis IV, Iowa type (van Allen type); amyloidosis VIII (systemic nonneuropathic, Ostertag type, German type; MIM:105200); hypoalphalipoproteinemia, primary;
