# MMACHC Regulates Craniofacial Development

> **NIH NIH R03** · UNIVERSITY OF TEXAS EL PASO · 2021 · $151,000

## Abstract

cblC is a multiple congenital anomaly syndrome caused by mutations in the MMACHC gene. cblC is
characterized by defects in cobalamin (vitamin B12) metabolism, but mild to moderate craniofacial abnormalities
have been consistently documented in patients. Mutations in the mouse Mmachc gene are developmentally
lethal and therefore, the mechanisms underlying the craniofacial deficits associated with cblC are not completely
understood. Here we seek to produce a viable zebrafish model of cblC syndrome with which to understand the
function of MMACHC in facial development. Specifically, we will determine whether the facial anomalies present
in cblC are associated with the accumulation of toxic metabolites and cobalamin binding. Our studies have the
potential to reveal a potentially paradigm shifting function for MMACHC in facial development and will help to
prevent and treat metabolically associated craniofacial phenotypes.

## Key facts

- **NIH application ID:** 10126691
- **Project number:** 1R03DE029517-01A1
- **Recipient organization:** UNIVERSITY OF TEXAS EL PASO
- **Principal Investigator:** Anita M Quintana
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $151,000
- **Award type:** 1
- **Project period:** 2021-01-01 → 2022-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10126691

## Citation

> US National Institutes of Health, RePORTER application 10126691, MMACHC Regulates Craniofacial Development (1R03DE029517-01A1). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10126691. Licensed CC0.

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