DNAH6 notes

Identity and structure

• UniProt Q9C0G6, 4158 aa.
• IDAg heavy chain (centrin-associated): PMID:39056782; PMID:37258679.
• Ortholog of Chlamydomonas DHC2 PMID:26918822.

Cilia / laterality

• Knockdown: PMID:26918822; central pair defects; off-target caveat acknowledged by authors.
• Oligogenic heterotaxy with DNAH5/DNAI1 (trans-heterozygous) PMID:26918822.
• Absent from axonemes in CCDC39/40 PCD PMID:39056782.

Sperm

• MMAF: PMID:31676830, PMID:37424858, PMID:37594300, PMID:40592014.
• Flagellar localization: PMID:37594300.
• Reduced in DNAH3- and DNAH7-deficient sperm [PMID:39503742; PMID:40810911].
• Candidate reports: sperm head anomaly PMID:29356036; azoospermia PMID:28206990 (single families, low confidence).

Curation decisions

• dynein complex (IBA/IEA) -> MODIFY to inner dynein arm.
• NEW: epithelial cilium movement involved in extracellular fluid movement (IMP PMID:26918822); sperm flagellum assembly (IMP PMID:37594300).
• Light intermediate chain binding kept as non-core; intermediate chain binding UNDECIDED.

PANTHER / IBA check

• Human Q9C0G6 and mouse E9Q0B6 have identical IBA sets (6 terms incl. dynein complex, but not inner dynein arm / IDA assembly / sperm flagellum assembly, which DNAH3 and DNAH7 get from PTN008503981/PTN008951089). No human/mouse split.

Deep research

• Falcon deep research failed (Edison API authentication 503 errors on repeated attempts).