Retinoic Acid-Induced Gene 1

Alternative Names

  • RAI1
  • Retinoic Acid-Inducible 1
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OMIM Number

607642

NCBI Gene ID

10743

Uniprot ID

Q7Z5J4

Length

129,996 bases

No. of Exons

11

No. of isoforms

4

Protein Name

Retinoic acid-induced protein 1

Molecular Mass

203352 Da

Amino Acid Count

1906

Genomic Location

chr17:17,681,457-17,811,452

Gene Map Locus
17p11.2

Description

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_030665.3:c.-17+34329A>GUnited Arab EmiratesNC_000017.11:g.17758488A>GNG_007101.2:g.82016A>G; NM_030665.3:c.-17+34329A>G; NP_109590.3:p.?4925109
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