Gene: [04p163/HD] huntingtin (HD protein); Huntington disease;

FUN

Huntingtin and huntingtin-associated protein (GEM:00.0/HAP1) may play a role in vesicle trafficking within the cell, and disruption of this function could contribute to the neuronal dysfunction and death seen in HD (Engelender-1997)."

PAT

Huntington disease may be caused by a toxic gain-of-function due to abnormal protein-protein interactions. The huntingtin-interacting proteins include the glycolytic enzyme GAPD (GEM:12p13/GAPD), huntingtin-associated protein (GEM:00.0/HAP1), and huntingtin-interacting proteins (GEM:07q1123/HIP1; GEM:04p14/HIP2)."

MAF

Bucan-1990 reported a physical map of p16.3 subsegment with 20 restriction fragments, which covered in total over 4.3 Mb between anonymous fragments D4S10 (G8, the centromeric flank of the subsegment) and D4S90 (D5, the telomeric flank). Gene HD itself is most probably located more distally than G8, between markers D4S114/D4S113 and the telomere, i.e., within 1.5 Mb from D5 to the proximal."

REL

GEM:04p163/D4S10.

REF

LIN,MAF "Bates GP &: AJHG, 49, N1, 7-16, 1991
MGC "Brandt &: JAMA, 261, 21, 1989
LIN,MAF "Bucan M &: Genomics, 6, N1, 1-15, 1990
MEB,FUN "Engelender S &: Hum Mol Genet, 6, 2205-2217, 1997
LOC,LIN "Folstein SE &: Science, 229, 776-779, 1985
LOC,LIN "Gilliam TC &: Cell, 50, 565-571, 1987
SEQ "MacDonald M, Ambrose CM : Cell, 72, 971-983, 1993
LIN,MAP "Pritchard C &: AJHG, 49, N1, 1-6, 1991
LOC,LIN "Robbins C &: AJHG, 44, 422-425, 1989
MGC "Schomig-Spingler M &: Eur J Pediatr, 148, 447-449, 1989
LOC,LIN "Skraastad &: CCG, 51, (HGM10), 1081, 1989
TIS "Trottier Y &: Nature Genet, 10, 104-110, 1995
LOC,LIN "Wasmuth JJ &: Nature, 332, 734-736, 1988
LIN,MAP "Whaley &: Somat Cell Mol Genet, 17, 8391, 1991
LOC,LIN "Youngman S &: Hum Genet, 73, 333-339, 1986

SWI

SWISSPROT: P42858

KEY

neu, tri

CLA

coding, basic

LOC

04 p16.3

MIM

MIM: 143100

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