HORMA Domain-Containing Protein 1

Alternative Names

  • HORMAD1
  • NOHMA

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

609824

NCBI Gene ID

84072

Uniprot ID

Q86X24

Length

22,836 bases

No. of Exons

16

No. of isoforms

5

Protein Name

HORMA domain-containing protein 1

Molecular Mass

45200 Da

Amino Acid Count

394

Genomic Location

chr1:150,698,060-150,720,895

Gene Map Locus
1q21.3

Description

This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032132.5:c.260_262delSaudi ArabiaNC_000001.11:g.150714105_150714107delLikely PathogenicNM_032132.5:c.260_262del; NP_115508.2:p.Asp87del
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