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TSGA10

Function

Plays a role in spermatogenesis (PubMed:28905369). When overexpressed, prevents nuclear localization of HIF1A (By similarity).

Involvement in disease

Spermatogenic failure 26

SPGF26

An autosomal recessive infertility disorder caused by spermatogenesis defects that result in acephalic spermatozoa.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Processed into N-terminal 27-kDa and C-terminal 55-kDa fragments.

Sequence Similarities

Belongs to the CEP135/TSGA10 family.

Tissue Specificity

Expressed in the testis, in spermatozoa (at protein level) (PubMed:11179690, PubMed:28905369). Expressed in actively dividing fetal tissues, including sternum, intestine, limb, kidney and stomach (PubMed:14585816).

Cellular localization

Alternative names

CEP4L, TSGA10, Testis-specific gene 10 protein, Testis development protein NYD-SP7

swissprot:Q9BZW7 omim:607166 entrezGene:80705