Zinc Finger Protein 469

Alternative Names

  • ZNF469
  • KIAA1858

Associated Diseases

Brittle Cornea Syndrome 1
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OMIM Number

612078

NCBI Gene ID

84627

Uniprot ID

Q96JG9

Length

339,823 bases

No. of Exons

5

No. of isoforms

1

Protein Name

Zinc finger protein 469

Molecular Mass

413295 Da

Amino Acid Count

3953

Genomic Location

chr16:88,100,931-88,440,753

Gene Map Locus
16q24.2

Description

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001367624.2:c.8901_8914dupSaudi ArabiaNC_000016.10:g.88436371_88436384dupPathogenicBrittle Cornea Syndrome 1NG_012236.2:g.13901_13914dup; NM_001367624.2:c.8901_8914dup; NP_001354553.1:p.Glu2972GlyfsTer50
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