MAP7D1

Chr 1

MAP7 domain containing 1

Also known as: PARCC1, RPRC1

NCBI Gene: 55700 ENSG00000116871 UniProt: Q3KQU3 OMIM: 621363

MAP7D1 encodes a microtubule-stabilizing protein that controls cell motility and neurite outgrowth by maintaining acetylated stable microtubules. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-truncating mutations.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in microtubule cytoskeleton organization. Located in spindle. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.29

Clinical Summary— MAP7D1

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.29LOEUF

pLI 0.992

Z-score 5.06

OE 0.15 (0.08–0.29)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

1.00Z-score

OE missense 0.88 (0.81–0.95)

449 obs / 512.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.15 (0.08–0.29)

0≤0.351.4

Missense OE?0.88 (0.81–0.95)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 6 / 40.9Missense obs/exp: 449 / 512.8Syn Z: 0.49

This gene — mechanism propensity

0.3991th %ile

GOF

0.4183th %ile

LOF

0.77top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.29

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.