REPS1 gene

RALBP1 associated Eps domain containing 1

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

From NCBI Gene:

This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

From UniProt:

May coordinate the cellular actions of activated EGF receptors and Ral-GTPases.

From NCBI Gene:

  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7

From UniProt:

Neurodegeneration with brain iron accumulation 7 (NBIA7): A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Clinical features include speech and motor delay, truncal hypotonia, progressive cerebellar ataxia, and loss of ambulation. NBIA7 transmission pattern is consistent with autosomal recessive inheritance. [MIM:617916]

Cytogenetic Location: 6q24.1, which is the long (q) arm of chromosome 6 at position 24.1

Molecular Location: base pairs 138,904,015 to 138,988,261 on chromosome 6 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 6q24.1, which is the long (q) arm of chromosome 6 at position 24.1
  • NBIA7
  • RALBP1