SACK1H — scaffolding CK1 anchoring protein H

5 sources retrieved · Most recent: April 2026 · Index updated 21 days ago

111PubMed Papers

#4,306 · top 22% of 19K genes

1Diseases

top 99%

0Drugs

27Pathogenic Variants

top 35%

OMIM Disease GeneSwiss-Prot Reviewed

Amelogenesis imperfecta 3A

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

scaffolding CK1 anchoring protein H

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations1

Amelogenesis imperfecta 3AUniProt

Pathogenic Variants27

NM_198488.5(SACK1H):c.2029C>T (p.Gln677Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type|not provided|Amelogenesis imperfecta, type 3A

★★☆☆2023→ Residue 677

NM_198488.5(SACK1H):c.1403_1413del (p.Arg468fs)Pathogenic

Amelogenesis imperfecta, type 3A

★☆☆☆2026→ Residue 468

NM_198488.5(SACK1H):c.930_939dup (p.Val314fs)Pathogenic

Amelogenesis imperfecta, hypocalcification type

★☆☆☆2023→ Residue 314

NM_198488.5(SACK1H):c.1375C>T (p.Gln459Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type

★☆☆☆2023→ Residue 459

NM_198488.5(SACK1H):c.1309_1311delinsTAG (p.His437Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type

★☆☆☆2023→ Residue 437

NM_198488.5(SACK1H):c.973C>T (p.Arg325Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type|Amelogenesis imperfecta, type 3A

★☆☆☆2021→ Residue 325

NM_198488.5(SACK1H):c.926_927del (p.Val309fs)Pathogenic

Amelogenesis imperfecta, hypocalcification type

★☆☆☆2017→ Residue 309

NM_198488.5(SACK1H):c.1192C>T (p.Gln398Ter)Pathogenic

Amelogenesis imperfecta, type 3A|FAM83H-related disorder

☆☆☆☆2024→ Residue 398

NM_198488.5(FAM83H):c.1070_1091del (p.Glu357fs)Likely pathogenic

FAM83H-related disorder

☆☆☆☆2024→ Residue 357

NM_198488.5(FAM83H):c.910_920del (p.Gly304fs)Likely pathogenic

FAM83H-related disorder

☆☆☆☆2024→ Residue 304

NM_198488.5(FAM83H):c.1261G>T (p.Glu421Ter)Pathogenic

FAM83H-related disorder

☆☆☆☆2024→ Residue 421

NM_198488.5(SACK1H):c.1363C>T (p.Gln455Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type

☆☆☆☆2021→ Residue 455

NM_198488.5(SACK1H):c.1915A>T (p.Lys639Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type

☆☆☆☆2021→ Residue 639

NM_198488.5(SACK1H):c.1330C>T (p.Gln444Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type

☆☆☆☆2021→ Residue 444

NM_198488.5(SACK1H):c.1309_1311delinsTAA (p.His437Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type

☆☆☆☆2021→ Residue 437

NM_198488.5(SACK1H):c.1408C>T (p.Gln470Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type|Amelogenesis imperfecta, type 3A

☆☆☆☆2021→ Residue 470

NM_198488.5(SACK1H):c.1828G>T (p.Glu610Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type

☆☆☆☆2021→ Residue 610

NM_198488.5(SACK1H):c.1379G>A (p.Trp460Ter)Pathogenic

Amelogenesis imperfecta, hypocalcification type|Amelogenesis imperfecta, type 3A

☆☆☆☆2020→ Residue 460

NM_198488.5(SACK1H):c.923_924del (p.Leu308fs)Pathogenic

Amelogenesis imperfecta, type 3A

☆☆☆☆2009→ Residue 308

NM_198488.5(SACK1H):c.860C>A (p.Ser287Ter)Pathogenic

Amelogenesis imperfecta, type 3A

☆☆☆☆2009→ Residue 287

Related Genes

No related genes found for this gene.

Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network

No interaction data available for this gene.

StructureAlphaFold

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AlphaFoldAI-predicted · UniProt Q6ZRV2

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ConstraintgnomAD v4.1

LOEUFⓘ

1.12LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.79 [0.57–1.12]

Rankings3 dim

Where SACK1H stands among ~20K protein-coding genes

#4,289of 20,598
Most Researched111 · top quartile
#1,897of 5,498
Most Pathogenic Variants27
#11,501of 17,882
Most Constrained (LOEUF)1.12