Gene: [20p13/ARVP] arginine vasopressin (neurophysin II, antidiuretic hormone); diabetes insipidus (neurohypophyseal; MIM:125700); [AVP NP2 DIH ]
GEN | The gene length is 3 kb. |
MOP | Prepropeptide ARVP is a polyfunctional precursor of three different peptides: the hormone vasopressin (AVP); its transfer protein, neurophysin II (NP2), and a still unidentified glycoprotein with unknown function." |
HET | In the clinical genetic aspects, two basic types of diabetes insipidus (DI) are distinguished - the primary central (hypothalamic or neurohypophysial) type (DIH or DI1) and the peripheral (primary nephrogenic or renal) type (DIR or DI2). According to MIM, both types may have either autosomal dominant (MIM:125700/DIH; MIM:125800/DIR) or X-linked inheritance (MIM:304800/DIR; MIM:304900/DIH)." |
ASS | The relationship between the gene AVP/NP2 and the phenotype DIH in human remains unclear. For Brattleboro rats, the autosomal recessive inheritance of DIH was found and its relationship with altered AVP/NP2 expression was demonstrated." |
REL | GEM:12q1/ARVPR1A; GEM:01q32/ARVPR1B. |
REF | PHE,FOG "Blackett &:
Am J Med Sci, 286, 42-46, 1983 FUN,PEP "Brownstein &: Science, 207, 373-378, 1980 PAT,MOD,MAM "Majzoub &: PNAS, 81, 5296-5299, 1984 PAT,MOD,MAM "McCabe &: Neuroendocrinology, 44, 361-364, 1986 PHE,FOG "Nagai &: Acta Endocrinol, 105, 318-323, 1984 PAT,MOD,MAM "Nojiri &: Neurosci Lett, 58, 101-105, 1985 PHE,FOG "Pedersen &: Quart J Med, 57, 883-896, 1985 POL,LIN,PAT "Phillips &: AJHG, 39, A215, 1986 MUT "Repaske DR &: J Clin Endocrinol Metab, 70, 752-757, 1990 LOC "Riddell DC &: Somat Cell Mol Genet, 11, 189-195, 1985 FUN,PEP "Russell DC &: PNAS, 76, 6086-6090, 1979 PAT,MOD,MAM "Schmale &: EMBO J, 3, 3289-3293, 1984 PAT,MOD,MAM "Sunde &: Ann NY Acad Sci, 248, 345-364, 1975 PAT,MOD,MAM "Valtin H: Am J Med, 42, 814-827, 1967 HIS,PAT "Weil A: Deutsch Arch Klin Med, 93, 180-290, 1908 HIS,PAT "Weil A: Virchow Arch A, 95, 70-95, 1884 CLO,GEN,SEQ "see FAM:HPH/20 |
SWI | SWISSPROT: P01185 |
KEY | neu, horm |
CLA | coding, basic |
LOC | 20 p13 |
MIM | MIM: 192340 |
SYN | AVP NP2 DIH |
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