HPCA gene

hippocalcin

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]

From UniProt:

May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds two calcium ions.

From NCBI Gene:

  • Dystonia 2, torsion, autosomal recessive

From UniProt:

Dystonia 2, torsion, autosomal recessive (DYT2): A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. [MIM:224500]

Cytogenetic Location: 1p35-p34.2, which is the short (p) arm of chromosome 1 between positions 35 and 34.2

Molecular Location: base pairs 32,885,965 to 32,894,646 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p35-p34.2, which is the short (p) arm of chromosome 1 between positions 35 and 34.2
  • BDR2
  • DYT2