Diaphanous-Related Formin 1

Alternative Names

  • DIAPH1
  • Diaphanous, Drosophila, Homolog of, 1
  • DIA1
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OMIM Number

602121

NCBI Gene ID

1729

Uniprot ID

O60610

Length

104,040 bases

No. of Exons

30

No. of isoforms

3

Protein Name

Protein diaphanous homolog 1

Molecular Mass

141347 Da

Amino Acid Count

1272

Genomic Location

chr5:141,515,015-141,619,054

Gene Map Locus
5q31.3

Description

This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005219.5:c.117+6130T>CUnited Arab EmiratesNC_000005.10:g.141612668A>GNG_011594.2:g.11388T>C; NM_005219.5:c.117+6130T>C; NP_005210.3:p.?3844598
NM_005219.5:c.2332C>TSaudi ArabiaNC_000005.10:g.141573518G>ALikely Pathogenic, PathogenicPathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeNG_011594.2:g.50538C>T; NM_005219.5:c.2332C>T; NP_005210.3:p.Gln778Ter730882242183344
NM_005219.5:c.2769delOmanNC_000005.10:g.141529183delPathogenicPathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeNG_011594.2:g.94875del; NM_005219.5:c.2769del; NP_005210.3:p.Phe923fs863225242217753
NM_005219.5:c.3145C>TUnited Arab EmiratesNC_000005.10:g.141528456G>APathogenicPathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeNG_011594.2:g.95600C>T; NM_005219.5:c.3145C>T; NP_005210.3:p.Arg1049Ter863225243217754
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