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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