ASXL Transcriptional Regulator 3

Alternative Names

  • ASXL3
  • Additional Sex Combs-Like 3
  • KIAA1713

Associated Diseases

Bainbridge-Ropers syndrome
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OMIM Number

615115

NCBI Gene ID

80816

Uniprot ID

Q9C0F0

Length

172,977 bases

No. of Exons

18

No. of isoforms

2

Protein Name

Putative Polycomb group protein ASXL3

Molecular Mass

241,919 Da

Amino Acid Count

2248

Genomic Location

chr18:33,578,219-33,751,195

Gene Map Locus
18q12.1

Description

This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_030632.3:c.4120_4123dupSaudi ArabiaNC_000018.10:g.33743968_33743971dupPathogenicPathogenicBainbridge-Ropers syndromeNG_055244.1:g.170392_170395dup; NM_030632.3:c.4120_4123dup; NP_085135.1:p.Ala1375AspfsTer721454268651223193
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