SLC45A1 gene

solute carrier family 45 member 1

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

From NCBI Gene:

This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]

From UniProt:

Proton-associated glucose transporter in the brain.

From NCBI Gene:

  • INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES

From UniProt:

Intellectual developmental disorder with neuropsychiatric features (IDDNPF): An autosomal recessive disorder characterized by moderate to severe intellectual disability, epilepsy, and variable neuropsychiatric features, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphism may also be present. [MIM:617532]

Cytogenetic Location: 1p36.23, which is the short (p) arm of chromosome 1 at position 36.23

Molecular Location: base pairs 8,318,085 to 8,344,167 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.23, which is the short (p) arm of chromosome 1 at position 36.23
  • DNB5
  • IDDNPF