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TTC21A

Developmental stage

Expressed in preleptotene spermatocytes, pachytene spermatocytes, round spermatids and elongated spermatids (at protein level).

Function

Intraflagellar transport (IFT)-associated protein required for spermatogenesis (PubMed:30929735). Required for sperm flagellar formation and intraflagellar transport (PubMed:30929735).

Involvement in disease

Spermatogenic failure 37

SPGF37

An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, primarily consisting of short or absent flagella, and neck defects at the head-tail junction.

None

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

Sequence Similarities

Belongs to the TTC21 family.

Tissue Specificity

Strongly expressed in testis.

Alternative names

STI2, TTC21A, Tetratricopeptide repeat protein 21A, TPR repeat protein 21A, Stress-inducible protein 2

omim:611430 swissprot:Q8NDW8 entrezGene:199223