GDNF-Inducible Zinc Finger Protein 1

Alternative Names

  • GZF1
  • Zinc Finger Protein 336
  • ZNF336
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OMIM Number

613842

NCBI Gene ID

64412

Uniprot ID

Q9H116

Length

11,936 bases

No. of Exons

9

No. of isoforms

2

Protein Name

GDNF-inducible zinc finger protein 1

Molecular Mass

80492 Da

Amino Acid Count

711

Genomic Location

chr20:23,361,127-23,373,062

Gene Map Locus
20p11.21

Description

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_022482.5:c.1054dupSaudi ArabiaNC_000020.11:g.23365437dupPathogenicPathogenicJoint Laxity, Short Stature, and MyopiaNM_022482.5:c.1054dup; NP_071927.1:p.Thr352AsnfsTer501555786729438349
NM_022482.5:c.865G>TSaudi ArabiaNC_000020.11:g.23365248G>TPathogenicPathogenicJoint Laxity, Short Stature, and MyopiaNM_022482.5:c.865G>T; NP_071927.1:p.Glu289Ter1555786618438348
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