Zinc Finger Protein 592

Alternative Names

  • ZNF592
  • KIAA0211

Associated Diseases

Galloway-Mowat Syndrome 1
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OMIM Number

613624

NCBI Gene ID

9640

Uniprot ID

Q92610

Length

57846 bases

No. of Exons

13

No. of isoforms

1

Protein Name

Zinc Finger Protein 592

Molecular Mass

137528 Da

Amino Acid Count

1267

Genomic Location

chr15: 84,748,561-84,806,445

Gene Map Locus
15q25.2

Description

ZNF592 comprises 13 zinc finger domains is expressed ubiquitously; it is highly expressed in skeletal muscle, brain, skin, and much less expressed in the ovary, uterus, and salivary gland. The gene is thought to be involved in developmental pathways including cerebellar development. Variants in this gene are associated with Galloway-Mowat Syndrome 1 and Spinoscerebellar Araxia Autosomal Recessive 5. A homozygous mutation in ZNF592 was associated with Galloway-Mowat Syndrome 1. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014630.2:c.3136G>ALebanonNC_000015.10:g.84799209G>AUncertain SignificanceLikely PathogenicGalloway-Mowat Syndrome 1NG_028094.1:g.55623G>A ; NM_014630.2:c.3136G>A ; NP_055445.2:p.Gly1046Arg 1508293934
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