Disease relevance of HS1BP3

• Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease [1].

High impact information on HS1BP3

• Two gene loci linked to ET, one on chromosome 3q13 and another on chromosome 2p24.1, have been identified, and a missense mutation in the HS1-BP3 gene on the 2p has been suggested as the cause of the disorder in about 10% of American ET patients [2].
• Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3 [3].
• Our data suggest a novel role for HS1BP3 in lymphocyte activation [3].
• Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET [4].
• HS1-BP3 gene variant is common in familial essential tremor [5].

Biological context of HS1BP3

• A missense mutation (828C-->G) in the transcript FLJ14249 (HS1-BP3) was identified in one US family [6].
• The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown [5].

Anatomical context of HS1BP3

• The HS1-BP3 protein binds to proteins that are highly expressed in motor neurons and Purkinje cells and regulate the Ca2+/calmodulin-dependent protein kinase activation of tyrosine and tryptophan hydroxylase [6].

Associations of HS1BP3 with chemical compounds

• The 828C-->G mutation causes a substitution of a glycine for an alanine residue in the HS1-BP3 protein [6].

Other interactions of HS1BP3

• Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C-->G variant in exon 7 of the HS1-BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product [5].

References