Ankyrin Repeat, SAM, and Basic Leucine Zipper Domain-Containing 1

Alternative Names

  • ASZ1
  • Ankyrin-Like Protein 1
  • ALP1
  • ANKL1
  • Germ Cell-Specific Protein Containing ANK, SAM, and Basic Leucine Zipper Domains
  • GASZ
  • C7orf7

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

605797

NCBI Gene ID

136991

Uniprot ID

Q8WWH4

Length

64,272 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1

Molecular Mass

53458 Da

Amino Acid Count

475

Genomic Location

chr7:117,363,222-117,427,493

Gene Map Locus
7q31.2

Description

Predicted to be involved in gamete generation and piRNA metabolic process. Predicted to be located in cytoplasm. Predicted to be active in pi-body. [From Alliance of Genome Resources]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_130768.3:c.614G>TSaudi ArabiaNC_000007.14:g.117384799C>ALikely PathogenicSpermatogenic Failure 1NM_130768.3:c.614G>T; NP_570124.1:p.Gly205Val
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