VPS13D gene

vacuolar protein sorting 13 homolog D

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

From NCBI Gene:

This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]

From UniProt:

Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission (PubMed:29307555, PubMed:29604224). Mitophagy plays an important role in regulating cell health and mitochondrial size and homeostasis.

From NCBI Gene:

  • Spinocerebellar ataxia autosomal recessive 4

From UniProt:

Spinocerebellar ataxia, autosomal recessive 4 (SCAR4): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR4 patients manifest ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable, ranging from early childhood to adulthood. [MIM:607317]

Cytogenetic Location: 1p36.22-p36.21, which is the short (p) arm of chromosome 1 between positions 36.22 and 36.21

Molecular Location: base pairs 12,230,030 to 12,512,047 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 1p36.22-p36.21, which is the short (p) arm of chromosome 1 between positions 36.22 and 36.21