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SALL4 spalt-like transcription factor 4

Also known as: DRRS; HSAL4; ZNF797

Summary

This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-19)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-19)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
20q13.2
Sequence:
Chromosome: 20; NC_000020.11 (51784009..51913245, complement)
Total number of exons:
10

Links

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